Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene Symbol RAD21
Synonyms CDLS4 | hHR21 | HR21 | HRAD21 | MCD1 | MGS | NXP1 | SCC1
Gene Description RAD21, RAD21 cohesin complex component, is a double-strand-break repair protein and member of the cohesion complex, which is responsible for maintaining sister chromatid segregation during the S-phase of the mitotic cycle (PMID: 22145905). Amplification and overexpression of Rad21 has been observed in several cancer types including breast, prostate, colorectal (PMID: 21255398, PMID: 24548858), and mutations have been identified in acute myeloid leukemia (PMID: 29288251).

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Variant Impact Protein Effect Variant Description Associated with drug Resistance
A377G missense unknown RAD21 A377G lies within the WAPL, PDS5B, and STAG1-interacting regions of the Rad21 protein (UniProt.org). A377G has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
A595T missense unknown RAD21 A595T does not lie within any known functional domains of the Rad21 protein (UniProt.org). A595T has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
amp none no effect RAD21 amplification indicates an increased number of copies of the RAD21 gene. However, the mechanism causing the increase is unspecified.
D116E missense unknown RAD21 D116E does not lie within any known functional domains of the Rad21 protein (UniProt.org). D116E has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
D118V missense unknown RAD21 D118V does not lie within any known functional domains of the Rad21 protein (UniProt.org). D118V has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
D123Y missense unknown RAD21 D123Y does not lie within any known functional domains of the Rad21 protein (UniProt.org). D123Y has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
D125H missense unknown RAD21 D125H does not lie within any known functional domains of the Rad21 protein (UniProt.org). D125H has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
D166N missense unknown RAD21 D166N does not lie within any known functional domains of the Rad21 protein (UniProt.org). D166N has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
D213E missense unknown RAD21 D213E does not lie within any known functional domains of the Rad21 protein (UniProt.org). D213E has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
D292H missense unknown RAD21 D292H lies within the WAPL and PDS5B-interacting regions of the Rad21 protein (UniProt.org). D292H has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
D333H missense unknown RAD21 D333H lies within the WAPL and PDS5B-interacting regions of the Rad21 protein (UniProt.org). D333H has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
D333N missense unknown RAD21 D333N lies within the WAPL and PDS5B-interacting regions of the Rad21 protein (UniProt.org). D333N has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
D414E missense unknown RAD21 D414E does not lie within any known functional domains of the Rad21 protein (UniProt.org). D414E has been identified in sequencing studies (PMID: 28626802), but has not been biochemically characterized and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
D484G missense unknown RAD21 D484G does not lie within any known functional domains of the Rad21 protein (UniProt.org). D484G has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
D484H missense unknown RAD21 D484H does not lie within any known functional domains of the Rad21 protein (UniProt.org). D484H has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
D550Y missense unknown RAD21 D550Y does not lie within any known functional domains of the Rad21 protein (UniProt.org). D550Y has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
D95H missense unknown RAD21 D95H does not lie within any known functional domains of the Rad21 protein (UniProt.org). D95H has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
E419K missense unknown RAD21 E419K does not lie within any known functional domains of the Rad21 protein (UniProt.org). E419K has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
E453Dfs*3 frameshift unknown RAD21 E453Dfs*3 indicates a shift in the reading frame starting at amino acid 453 and terminating 3 residues downstream causing a premature truncation of the 631 amino acid Rad21 protein (UniProt.org). E453Dfs*3 has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
E495D missense unknown RAD21 E495D does not lie within any known functional domains of the Rad21 protein (UniProt.org). E495D has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
E508Q missense unknown RAD21 E508Q does not lie within any known functional domains of the Rad21 protein (UniProt.org). E508Q has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
E98Q missense unknown RAD21 E98Q does not lie within any known functional domains of the Rad21 protein (UniProt.org). E98Q has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
F114C missense unknown RAD21 F114C does not lie within any known functional domains of the Rad21 protein (UniProt.org). F114C has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
F373L missense unknown RAD21 F373L lies within the WAPL and PDS5B-interacting regions of the Rad21 protein (UniProt.org). F373L has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
F82I missense unknown RAD21 F82I does not lie within any known functional domains of the Rad21 protein (UniProt.org). F82I has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
G150V missense unknown RAD21 G150V does not lie within any known functional domains of the Rad21 protein (UniProt.org). G150V has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
G223* nonsense loss of function - predicted RAD21 G223* results in a premature truncation of the Rad21 protein at amino acid 223 of 631 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), G223* is predicted to lead to a loss of Rad21 protein function.
G240S missense unknown RAD21 G240S does not lie within any known functional domains of the Rad21 protein (UniProt.org). G240S has has been identified in the scientific literature (PMID: 31844143), but has not been biochemically characterized and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
G62E missense unknown RAD21 G62E does not lie within any known functional domains of the Rad21 protein (UniProt.org). G62E has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
H629Y missense unknown RAD21 H629Y does not lie within any known functional domains of the Rad21 protein (UniProt.org). H629Y has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
I154T missense unknown RAD21 I154T does not lie within any known functional domains of the Rad21 protein (UniProt.org). I154T has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
I44V missense unknown RAD21 I44V does not lie within any known functional domains of the Rad21 protein (UniProt.org). I44V has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
inact mut unknown loss of function RAD21 inact mut indicates that this variant results in a loss of function of the Rad21 protein. However, the specific amino acid change has not been identified.
K29T missense unknown RAD21 K29T does not lie within any known functional domains of the Rad21 protein (UniProt.org). K29T has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
K335N missense unknown RAD21 K335N lies within the WAPL and PDS5B-interacting regions of the Rad21 protein (UniProt.org). K335N has not been characterized and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
K596E missense unknown RAD21 K596E does not lie within any known functional domains of the Rad21 protein (UniProt.org). K596E has not been characterized and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
L341R missense unknown RAD21 L341R lies within the WAPL and PDS5B-interacting regions of the Rad21 protein (UniProt.org). L341R has not been characterized and therefore, its effect on Rad21 protein function is unknown (PubMed, Jun 2020).
L564F missense unknown RAD21 L564F does not lie within any known functional domains of the Rad21 protein (UniProt.org). L564F has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
L567V missense unknown RAD21 L567V does not lie within any known functional domains of the Rad21 protein (UniProt.org). L567V has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
L582P missense unknown RAD21 L582P does not lie within any known functional domains of the Rad21 protein (UniProt.org). L582P has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
M362L missense unknown RAD21 M362L lies within the WAPL and PDS5B-interacting regions of the Rad21 protein (UniProt.org). M362L has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
mutant unknown unknown RAD21 mutant indicates an unspecified mutation in the RAD21 gene.
over exp none no effect RAD21 over exp indicates an over expression of the Rad21 protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
P283L missense unknown RAD21 P283L does not lie within any known functional domains of the Rad21 protein (UniProt.org). P283L has been identified in sequencing studies (PMID: 26286987), but has not been biochemically characterized and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
P426S missense unknown RAD21 P426S does not lie within any known functional domains of the Rad21 protein (UniProt.org). P426S has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
P443L missense unknown RAD21 P443L does not lie within any known functional domains of the Rad21 protein (UniProt.org). P443L has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
P506L missense unknown RAD21 P506L does not lie within any known functional domains of the Rad21 protein (UniProt.org). P506L has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
P509H missense unknown RAD21 P509H does not lie within any known functional domains of the Rad21 protein (UniProt.org). P509H has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
P509L missense unknown RAD21 P509L does not lie within any known functional domains of the Rad21 protein (UniProt.org). P509L has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
Q214K missense unknown RAD21 Q214K does not lie within any known functional domains of the Rad21 protein (UniProt.org). Q214K has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
Q293E missense unknown RAD21 Q293E lies within the WAPL and PDS5B-interacting regions of the Rad21 protein (UniProt.org). Q293E has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
Q474* nonsense unknown RAD21 Q474* results in a premature truncation of the Rad21 protein at amino acid 474 of 631 (UniProt.org). Q474* has been identified in sequencing studies (PMID: 29681454), but has not been biochemically characterized and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
Q551* nonsense unknown RAD21 Q551* results in a premature truncation of the Rad21 protein at amino acid 551 of 631 (UniProt.org). Q551* has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
R168C missense unknown RAD21 R168C does not lie within any known functional domains of the Rad21 protein (UniProt.org). R168C has been identified in sequencing studies (PMID: 26214590), but has not been biochemically characterized and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
R391H missense unknown RAD21 R391H lies within the WAPL and PDS5B-interacting regions of the Rad21 protein (UniProt.org). R391H has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
R437H missense unknown RAD21 R437H does not lie within any known functional domains of the Rad21 protein (UniProt.org). R437H has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
R54Q missense unknown RAD21 R54Q does not lie within any known functional domains of the Rad21 protein (UniProt.org). R54Q has been identified in sequencing studies (PMID: 29288251), but has not been biochemically characterized and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
R54W missense unknown RAD21 R54W does not lie within any known functional domains of the Rad21 protein (UniProt.org). R54W has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
R586* nonsense unknown RAD21 R586* results in a premature truncation of the Rad21 protein at amino acid 586 of 631 (UniProt.org). R586* has been identified in sequencing studies (PMID: 27276561, PMID: 27288520, PMID: 26728869), but has not been biochemically characterized and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
R65Q missense unknown RAD21 R65Q does not lie within any known functional domains of the Rad21 protein (UniProt.org). R65Q has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
R90W missense unknown RAD21 R90W does not lie within any known functional domains of the Rad21 protein (UniProt.org). R90W has been identified in sequencing studies (PMID: 25303977), but has not been biochemically characterized and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
S200C missense unknown RAD21 S200C does not lie within any known functional domains of the Rad21 protein (UniProt.org). S200C has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
S374F missense unknown RAD21 S374F lies within the STAG1, WAPL, and PDS5B-interacting regions of the Rad21 protein (UniProt.org). S374F has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
T390A missense unknown RAD21 T390A lies within the STAG1, WAPL, and PDS5B-interacting regions of the Rad21 protein (UniProt.org). T390A has been demonstrated to have reduced binding to Stag1 and Stag2, when in combination with other Rad21 mutations, L385A, F389A (PMID: 23874961), but has not been individually characterized and therefore, the effect on Rad21 protein function is unknown (PubMed, Mar 2020).
V129L missense unknown RAD21 V129L does not lie within any known functional domains of the Rad21 protein (UniProt.org). V129L has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
V284I missense unknown RAD21 V284I does not lie within any known functional domains of the Rad21 protein (UniProt.org). V284I has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
V32M missense unknown RAD21 V32M does not lie within any known functional domains of the Rad21 protein (UniProt.org). V32M has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
V41M missense unknown RAD21 V41M does not lie within any known functional domains of the Rad21 protein (UniProt.org). V41M has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
W18C missense unknown RAD21 W18C does not lie within any known functional domains of the Rad21 protein (UniProt.org). W18C has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).
wild-type none no effect Wild-type RAD21 indicates that no mutation has been detected within the RAD21 gene.
Y617C missense unknown RAD21 Y617C does not lie within any known functional domains of the Rad21 protein (UniProt.org). Y617C has not been characterized in the scientific literature and therefore, its effect on Rad21 protein function is unknown (PubMed, Mar 2020).