Varaico: Literature-Extracted Genetic Variants

Gene:EPHA3
Variant:p.S906I

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.S906I
c.2717G>T
Surrounding Variants
1 paper
NM_005233.6
p.S906R
c.2716A>C
1 paper
NM_005233.6
p.S906G
c.2716A>G
1 paper
NM_005233.6
p.S906R
c.2718C>A
1 paper
NM_005233.6
p.S906R
c.2718C>G
1 paper
NM_005233.6
p.Q905K
c.2713C>A
1 paper
NM_005233.6
p.D909V
c.2726A>T
1 paper
NM_005233.6
p.I910V
c.2728A>G
1 paper
NM_005233.6
p.L903del1
c.2707_2709delCTG
1 paper
NM_005233.6
p.L901H
c.2702T>A
1 paper
NM_005233.6
p.N900K
c.2700C>A
1 paper
NM_005233.6
p.N900K
c.2700C>G
1 paper
NM_005233.6
p.F913I
c.2737T>A
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