Gene Variant 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 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, Jun 2020).
Associated Drug Resistance

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.

Transcript NM_005235
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_017003579 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
XM_017003577 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38
XM_017003581 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_005246376 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_017003578 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
NM_001042599 chr2:g.212538476T>C c.55A>G p.T19A RefSeq GRCh38/hg38

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.

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