Gene Variant Detail

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Gene ERBB4
Variant T19A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ERBB4 T19A does not lie within any known functional domains of the Erbb4 protein (UniProt.org). T19A has been identified in sequencing studies (PMID: 25275298), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Dec 2020).
Associated Drug Resistance

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Transcript NM_005235.2
gDNA chr2:g.212538476T>C
cDNA c.55A>G
Protein p.T19A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017003581 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38
NM_001042599 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38
XM_006712364.3 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38
NM_001042599.1 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38
XM_017003581.2 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38
XM_017003580.2 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38
XM_017003579 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38
XM_017003580 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38
XM_017003577.2 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38
XM_005246377 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38
XM_005246376 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38
XM_017003579.2 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38
XM_017003578.2 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38
XM_017003578 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38
XM_017003577 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38
XM_006712364 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38
XM_005246377.3 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38
XM_005246376.3 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38
NM_005235.2 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38
NM_005235 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38

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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB4 mutant lung squamous cell carcinoma predicted - sensitive Afatinib Phase III Actionable In a Phase III trial (LUX-Lung 8), secondary analysis demonstrated favorable outcomes with Gilotrif (afatinib) treatment compared to Tarceva (erlotinib) in lung squamous cell carcinoma patients with ERBB (HER) family mutations, and ERBB4 (HER4) mutations predicted an OS (HR=0.22) and PFS (HR=0.21) benefit for Gilotrif (afatinib) over Tarceva (erlotinib) treatment (PMID: 29902295; NCT01523587). 29902295
Molecular Profile Protein Effect Treatment Approaches
ERBB4 T19A unknown