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Gene Symbol KDM6A
Synonyms bA386N14.2 | KABUK2 | UTX
Gene Description KDM6A, lysine demethylase 6A, is a Jumonji domain histone demethylase that targets H3 lysine 27 (H3K27) to regulate gene transcription through chromatin remodeling and plays a role in cell growth and differentiation (PMID: 30753822). Altered expression of Kdm6a has been reported in HNSCC and bladder cancer (PMID: 25275298, PMID: 25225064) and mutations have been observed in acute myeloid leukemia, bladder carcinoma, breast cancer, chronic myeloid leukemia, colorectal adenocarcinoma, endometrial adenocarcinoma, clear cell renal cell carcinoma, and glioblastoma (PMID: 30753822).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A1203T missense unknown KDM6A A1203T lies within the JmjC domain of the Kdm6a protein (UniProt.org). A1203T has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
A130D missense unknown KDM6A A130D lies within the TPR repeat 2 of the Kdm6a protein (UniProt.org). A130D has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2020).
A30V missense unknown KDM6A A30V lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). A30V has been identified in sequencing studies (PMID: 31004019), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2020).
C1334Y missense unknown KDM6A C1334Y does not lie within any known functional domains of the Kdm6a protein (UniProt.org). C1334Y has not been characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2020).
D1216N missense unknown KDM6A D1216N lies within the JmjC domain of the Kdm6a protein (UniProt.org). D1216N has been identified in sequencing studies (PMID: 26909576), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2020).
D1216Y missense unknown KDM6A D1216Y lies within the JmjC domain of the Kdm6a protein (UniProt.org). D1216Y has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2020).
D261H missense unknown KDM6A D261H lies within TPR repeat 5 of the Kdm6a protein (UniProt.org). D261H has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
D336G missense unknown KDM6A D336G lies within TPR repeat 7 of the Kdm6a protein (UniProt.org). D336G has been identified in sequencing studies (PMID: 21822268), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
D980V missense loss of function - predicted KDM6A D980V lies with the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). D980V results in a loss of H3K27me3 reduction in cultured cells (PMID: 29073101), and therefore, is predicted to lead of a loss of Kdm6a protein function.
E1102K missense unknown KDM6A E1102K lies within the JmjC domain of the Kdm6a protein (UniProt.org). E1102K has been identified in the scientific literature (PMID: 29180607, PMID: 24997986), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2020).
E1316Rfs*17 frameshift unknown KDM6A E1316Rfs*17 indicates a shift in the reading frame starting at amino acid 1316 and terminating 17 residues downstream causing a premature truncation of the 1401 amino acid Kdm6a protein (UniProt.org). E1316Rfs*17 has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
E1316Rfs*40 frameshift unknown KDM6A E1316Rfs*40 indicates a shift in the reading frame starting at amino acid 1316 and terminating 40 residues downstream causing a premature truncation of the 1401 amino acid Kdm6a protein (UniProt.org). E1316Rfs*40 has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
E168* nonsense loss of function - predicted KDM6A E168* results in a premature truncation of the Kdm6a protein at amino acid 168 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), E168* is predicted to lead to a loss of Kdm6a function.
E315Q missense unknown KDM6A E315Q lies within the TPR repeat 6 of the Kdm6a protein (UniProt.org). E315Q has not been characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2020).
E92* nonsense loss of function - predicted KDM6A E92* results in a premature truncation of the Kdm6a protein at amino acid 92 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), E92* is predicted to lead to a loss of Kdm6a function.
E999* nonsense loss of function - predicted KDM6A E999* results in a premature truncation of the Kdm6a protein at amino acid 999 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), E999* is predicted to lead to a loss of Kdm6a function.
F1180L missense unknown KDM6A F1180L lies within the JmjC domain of the Kdm6a protein (UniProt.org). F1180L has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
F1343C missense unknown KDM6A F1343C does not lie within any known functional domains of the Kdm6a protein (UniProt.org). F1343C has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
G1085E missense unknown KDM6A G1085E lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). G1085E has not been characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
G1085R missense unknown KDM6A G1085R lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). G1085R has been identified in sequencing studies (PMID: 24816253), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
G1140E missense unknown KDM6A G1140E lies within the JmjC domain of the Kdm6a protein (UniProt.org). G1140E has been identified in sequencing studies (PMID: 24816253, PMID: 23685749), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2020).
G1145D missense unknown KDM6A G1145D lies within the JmjC domain of the Kdm6a protein (UniProt.org). G1145D has been identified in sequencing studies (PMID: 30262806), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
G1160V missense unknown KDM6A G1160V lies within the JmjC domain of the Kdm6a protein (UniProt.org). G1160V has been identified in sequencing studies (PMID: 22610119), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2020).
G1223D missense unknown KDM6A G1223D lies within the JmjC domain of the Kdm6a protein (UniProt.org). G1223D has been identified in sequencing studies (PMID: 21822268, PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2020).
G1242R missense unknown KDM6A G1242R lies within the JmjC domain of the Kdm6a protein (UniProt.org). G1242R has been identified in sequencing studies (PMID: 24686850), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2020).
G1242V missense unknown KDM6A G1242V lies within the JmjC domain of the Kdm6a protein (UniProt.org). G1242V has been identified in sequencing studies (PMID: 24710217, PMID: 22722829), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2020).
G1314* nonsense unknown KDM6A G1314* results in a premature truncation of the Kdm6a protein at amino acid 1314 of 1401 (UniProt.org). G1314* has been identified in sequencing studies (PMID: 26168399), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2020).
G1321W missense unknown KDM6A G1321W does not lie within any known functional domains of the Kdm6a protein (UniProt.org). G1321W has been identified in sequencing studies (PMID: 19330029), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Mar 2020).
G653S missense unknown KDM6A G653S lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). G653S has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
H101D missense unknown KDM6A H101D lies within TPR repeat 1 of the Kdm6a protein (UniProt.org). H101D has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
H1146A missense loss of function - predicted KDM6A H1146A lies within the JmjC domain of the Kdm6a protein (UniProt.org). H1146A results in the loss of H3K27 demethylase activity alone (PMID: 18003914), and when combined with the KDM6A E1148A mutation in in vitro assays (PMID: 17761849, PMID: 22949634), and therefore, is predicted to lead to a loss of Kdm6a protein function.
H702Qfs*28 frameshift loss of function - predicted KDM6A H702Qfs*28 indicates a shift in the reading frame starting at amino acid 702 and terminating 28 residues downstream causing a premature truncation of the 1401 amino acid Kdm6a protein (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), H702Qfs*28 is predicted to lead to a loss of Kdm6a function.
inact mut unknown loss of function KDM6A inact mut indicates that this variant results in a loss of function of the Kdm6a protein. However, the specific amino acid change has not been identified.
K188R missense unknown KDM6A K188R lies within TPR repeat 3 of the Kdm6a protein (UniProt.org). K188R maintains Kdm6a demethylation activity as indicated by decreased H3K27me3 levels, and is associated with similar activation of Notch1 expression to wild-type Kdm6a (PMID: 29073101), however, fails to rescue cell number relative to wild-type Kdm6a in cells lacking Kdm6a in culture, and therefore, it effect on Kdm6a protein function is unknown.
K987* nonsense loss of function - predicted KDM6A K987* results in a premature truncation of the Kdm6a protein at amino acid 987 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), K987* is predicted to lead to a loss of Kdm6a function.
K987R missense unknown KDM6A K987R lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). K987R has not been characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
L1098* nonsense loss of function - predicted KDM6A L1098* results in a premature truncation of the Kdm6a protein at amino acid 1098 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), L1098* is predicted to lead to a loss of Kdm6a function.
L1119P missense unknown KDM6A L1119P lies within the JmjC domain of the Kdm6a protein (UniProt.org). L1119P has not been characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
L1200F missense unknown KDM6A L1200F lies within the JmjC domain of the Kdm6a protein (UniProt.org). L1200F has been identified in sequencing studies (PMID: 30718927), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
L1306S missense unknown KDM6A L1306S does not lie within any known functional domains of the Kdm6a protein (UniProt.org). L1306S has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
L1375P missense unknown KDM6A L1375P does not lie within any known functional domains of the Kdm6a protein (UniProt.org). L1375P has been identified in sequencing studies (PMID: 23685749), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2020).
L187* nonsense loss of function - predicted KDM6A L187* results in a premature truncation of the Kdm6a protein at amino acid 187 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), L187* is predicted to lead to a loss of Kdm6a function.
L416F missense unknown KDM6A L416F lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). L416F has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
loss unknown loss of function KDM6A loss indicates loss of the KDM6A gene, mRNA, and protein.
M494I missense unknown KDM6A M494I lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). M494I has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
mutant unknown unknown KDM6A mutant indicates an unspecified mutation in the KDM6A gene.
N1087D missense unknown KDM6A N1087D lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). N1087D has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
N1151S missense unknown KDM6A N1151S lies within the JmjC domain of the Kdm6a protein (UniProt.org). N1151S has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
N1158H missense unknown KDM6A N1158H lies within the JmjC domain of the Kdm6a protein (UniProt.org). N1158H has been identified in sequencing studies (PMID: 26000489), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
N902S missense unknown KDM6A N902S lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). N902S has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
N906Kfs*5 frameshift loss of function - predicted KDM6A N906Kfs*5 indicates a shift in the reading frame starting at amino acid 906 and terminating 5 residues downstream causing a premature truncation of the 1401 amino acid Kdm6a protein (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), N906Kfs*5 is predicted to lead to a loss of Kdm6a function.
N910S missense loss of function - predicted KDM6A N910S lies within the SUPTH-interacting region of the Kdm6a protein (UniProt.org). N910S maintains Kdm6a demethylation activity as indicated by decreased H3K27me3 levels, but results in decreased activation of Notch1 expression compared to wild-type Kdm6a in cell culture (PMID: 29073101), and therefore is predicted to lead to a loss of Kdm6a protein function.
P110R missense unknown KDM6A P110R lies within TPR repeat 1 of the Kdm6a protein (UniProt.org). P110R has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
P110S missense unknown KDM6A P110S lies within TPR repeat 1 of the Kdm6a protein (UniProt.org). P110S has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
P1269S missense unknown KDM6A P1269S does not lie within any known functional domains of the Kdm6a protein (UniProt.org). P1269S has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
P405S missense unknown KDM6A P405S lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). P405S has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
P566L missense unknown KDM6A P566L lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). P566L has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
P877L missense unknown KDM6A P877L lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). P877L has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
P966R missense unknown KDM6A P966R lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). P966R has been identified in sequencing studies (PMID: 21822268), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
Q1133* nonsense loss of function - predicted KDM6A Q1133* results in a premature truncation of the Kdm6a protein at amino acid 1133 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), Q1133* is predicted to lead to a loss of Kdm6a function.
Q117* nonsense loss of function - predicted KDM6A Q117* results in a premature truncation of the Kdm6a protein at amino acid 117 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), Q117* is predicted to lead to a loss of Kdm6a function.
Q1229* nonsense unknown KDM6A Q1229* results in a premature truncation of the Kdm6a protein at amino acid 1229 of 1401 (UniProt.org). Q1229* has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
Q1377* nonsense unknown KDM6A Q1377* results in a premature truncation of the Kdm6a protein at amino acid 1377 of 1401 (UniProt.org). Q1377* has been identified in sequencing studies (PMID: 21822268), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
Q333* nonsense loss of function - predicted KDM6A Q333* results in a premature truncation of the Kdm6a protein at amino acid 333 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), Q333* is predicted to lead to a loss of Kdm6a function.
Q333K missense unknown KDM6A Q333K lies within the TPR repeat 7 of the Kdm6a protein (UniProt.org). Q333K has been identified in sequencing studies (PMID: 26065650), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Apr 2020).
Q369* nonsense loss of function - predicted KDM6A Q369* results in a premature truncation of the Kdm6a protein at amino acid 369 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), Q369* is predicted to lead to a loss of Kdm6a function.
Q398H missense unknown KDM6A Q398H lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). Q398H has not been characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
Q541* nonsense loss of function - predicted KDM6A Q541* results in a premature truncation of the Kdm6a protein at amino acid 541 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), Q541* is predicted to lead to a loss of Kdm6a function.
Q555* nonsense loss of function - predicted KDM6A Q555* results in a premature truncation of the Kdm6a protein at amino acid 555 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), Q555* is predicted to lead to a loss of Kdm6a function.
Q641* nonsense loss of function - predicted KDM6A Q641* results in a premature truncation of the Kdm6a protein at amino acid 641 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), Q641* is predicted to lead to a loss of Kdm6a function.
R1213Q missense unknown KDM6A R1213Q lies within the JmjC domain of the Kdm6a protein (UniProt.org). R1213Q has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
R1255W missense loss of function - predicted KDM6A R1255W lies within the JmjC domain of the Kdm6a protein (UniProt.org). R1255W results in a loss of H3K27me3 reduction in cell culture (PMID: 29073101), and therefore, is predicted to lead to a loss of Kdm6a protein function.
R1322W missense unknown KDM6A R1322W does not lie within any known functional domains of the Kdm6a protein (UniProt.org). R1322W has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
R1351* nonsense loss of function - predicted KDM6A R1351* results in a premature truncation of the Kdm6a protein at amino acid 1351 of 1401 (UniProt.org). W1239* results in a loss of H3K27me3 reduction in cultured cells (PMID: 29073101), and therefore, is predicted to lead to a loss of Kdm6a protein function.
R393Q missense unknown KDM6A R393Q lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). R393Q has been identified in sequencing studies (PMID: 22877736), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
R519P missense unknown KDM6A R519P lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). R519P has been identified in sequencing studies (PMID: 23780408), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Mar 2020).
R901M missense unknown KDM6A R901M lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). R901M has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
R971C missense unknown KDM6A R971C lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). R971C has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Mar 2020).
S1025G missense loss of function KDM6A S1025G lies with the the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). S1025G results in a loss of Kdm6a demethylation activity, as indicated by loss of H3K27me3 reduction, and leads to decreased activation Notch1 expression compared to wild-type Kdm6a in cultured cells (PMID: 29073101).
S1114L missense unknown KDM6A S1114L lies within the JmjC domain of the Kdm6a protein (UniProt.org). S1114L has been identified in sequencing studies (PMID: 29136510, PMID: 21822268), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Mar 2020).
S295* nonsense loss of function - predicted KDM6A S295* results in a premature truncation of the Kdm6a protein at amino acid 295 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), S295* is predicted to lead to a loss of Kdm6a function.
S40Afs*2 frameshift loss of function - predicted KDM6A S40Afs*2 indicates a shift in the reading frame starting at amino acid 40 and terminating 2 residues downstream causing a premature truncation of the 1401 amino acid Kdm6a protein (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), S40Afs*2 is predicted to lead to a loss of Kdm6a function.
S775* nonsense loss of function - predicted KDM6A S775* results in a premature truncation of the Kdm6a protein at amino acid 775 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), S775* is predicted to lead to a loss of Kdm6a function.
S886Y missense unknown KDM6A S886Y lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). S886Y has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
T1002A missense unknown KDM6A T1002A lies within the SUPT6H interaction domain of the Kdm6a protein (UniProt.org). T1002A as been identified in sequencing studies (PMID: 23685749), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020)
T726K missense unknown KDM6A T726K lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). T726K has been identified in sequencing studies (PMID: 27323954, PMID: 31470906), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, May 2020).
V1205G missense unknown KDM6A V1205G lies within the JmjC domain of the Kdm6a protein (UniProt.org). V1205G has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
V1253G missense unknown KDM6A V1253G lies within the JmjC domain of the Kdm6a protein (UniProt.org). V1253G has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
V1338F missense unknown KDM6A V1338F does not lie within any known functional domains of the Kdm6a protein (UniProt.org). V1338F has not been characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Mar 2020).
V607M missense unknown KDM6A V607M lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). V607M has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Mar 2020).
V815F missense unknown KDM6A V815F lies within the SUPT6H-interacting region of the Kdm6a protein (UniProt.org). V815F has been identified in sequencing studies (PMID: 19330029), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
W1193* nonsense unknown KDM6A W1193* results in a premature truncation of the Kdm6a protein at amino acid 1193 of 1401 (UniProt.org). W1193* has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
W1194* nonsense unknown KDM6A W1194* results in a premature truncation of the Kdm6a protein at amino acid 1194 of 1401 (UniProt.org). W1194* has been identified in sequencing studies (PMID: 24755471, PMID: 21822268, PMID: 32375398), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
W1219* nonsense unknown KDM6A W1219* results in a premature truncation of the Kdm6a protein at amino acid 1219 of 1401 (UniProt.org). W1219* has been identified in sequencing studies (PMID: 24030381), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Jul 2020).
W1239* nonsense loss of function - predicted KDM6A W1239* results in a premature truncation of the Kdm6a protein at amino acid 1239 of 1401 (UniProt.org). W1239* results in a loss of H3K27me3 reduction in cultured cells (PMID: 29073101), and therefore, is predicted to lead to a loss of Kdm6a protein function.
W1239G missense unknown KDM6A W1239G lies within the JmjC domain of the Kdm6a protein (UniProt.org). W1239G has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
Y1173N missense unknown KDM6A Y1173N lies within the JmjC domain of the Kdm6a protein (UniProt.org). Y1173N has been identified in sequencing studies (PMID: 21822268), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
Y1256* nonsense unknown KDM6A Y1256* results in a premature truncation of the Kdm6a protein at amino acid 1256 of 1401 (UniProt.org). Y1256*has been identified in sequencing studies (PMID: 22832583), but has not been biochemically characterized and therefore, its effect on Kdm6a protein function is unknown (PubMed, Mar 2020).
Y1256H missense unknown KDM6A Y1256H lies within the JmjC domain of the Kdm6a protein (UniProt.org). Y1256H has not been characterized in the scientific literature and therefore, its effect on Kdm6a protein function is unknown (PubMed, Sep 2020).
Y126* nonsense loss of function - predicted KDM6A Y126* results in a premature truncation of the Kdm6a protein at amino acid 126 of 1401 (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), Y126* is predicted to lead to a loss of Kdm6a function.
Y126Tfs*54 frameshift loss of function - predicted KDM6A Y126Tfs*54 indicates a shift in the reading frame starting at amino acid 126 and terminating 54 residues downstream causing a premature truncation of the 1401 amino acid Kdm6a protein (UniProt.org). Due to the loss of the JmjC domain (UniProt.org), Y126Tfs*54 is predicted to lead to a loss of Kdm6a function.