Varaico: Literature-Extracted Genetic Variants

Gene:EPHA3
Variant:p.W86insFs

EPHA3

1,318 papers

RefSeq Summary

This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nerv...

Pfam Domains

Ephrin_lbdaa 30–202UCSCEphrin receptor ligand binding domain
Ephrin_CRDaa 203–259UCSCEphrin cysteine rich domain
Ephrin_rec_likeaa 263–306UCSCTyrosine-protein kinase ephrin type A/B receptor-like
fn3aa 327–426UCSCFibronectin type III domain
fn3aa 435–527UCSCFibronectin type III domain
EphA2_TMaa 543–618UCSCEphrin type-A receptor 2 transmembrane domain

Gene Aliases

HGNC Name

EPH receptor A3

HGNC Previous Symbols

ETK; ETK1; TYRO4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005233.6
p.W86insFs
c.258dupG
Surrounding Variants
1 paper
NM_005233.6
p.W86*
c.257G>A
1 paper
NM_005233.6
p.N85T
c.254A>C
6 papers
NM_005233.6
p.N85S
c.254A>G
1 paper
NM_005233.6
p.W86*
c.258G>A
1 paper
NM_005233.6
p.V87I
c.259G>A
3 papers
NM_005233.6
p.V87L
c.259G>C
1 paper
NM_005233.6
p.T84T
c.252A>T
2 papers
NM_005233.6
p.T84A
c.250A>G
1 paper
NM_005233.6
p.P88T
c.262C>A
1 paper
NM_005233.6
p.P88H
c.263C>A
1 paper
NM_005233.6
p.P88L
c.263C>T
1 paper
NM_005233.6
p.R89S
c.267G>C
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