Varaico: Literature-Extracted Genetic Variants

Gene:EPHA3
Variant:p.V759L

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.V759L
c.2275G>T
Surrounding Variants
3 papers
NM_005233.6
p.V759M
c.2275G>A
1 paper
NM_005233.6
p.V759L
c.2275G>C
1 paper
NM_005233.6
p.L758F
c.2274G>C
1 paper
NM_005233.6
p.L758F
c.2274G>T
1 paper
NM_005233.6
p.C760F
c.2279G>T
8 papers
NM_005233.6
p.K761N
c.2283G>C
8 papers
NM_005233.6
p.K761N
c.2283G>T
2 papers
NM_005233.6
p.S756I
c.2267G>T
1 paper
NM_005233.6
p.N755K
c.2265C>A
1 paper
NM_005233.6
p.N755K
c.2265C>G
1 paper
NM_005233.6
p.F765L
c.2293T>C
1 paper
NM_005233.6
p.F765L
c.2295C>A
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