Varaico: Literature-Extracted Genetic Variants

Gene:EPHA3
Variant:p.D75E

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
3 papers
NM_005233.6
p.D75E
c.225C>G
Surrounding Variants
2 papers
NM_005233.6
p.D75E
c.225C>A
1 paper
NM_005233.6
p.H76N
c.226C>A
1 paper
NM_005233.6
p.H76L
c.227A>T
1 paper
NM_005233.6
p.D75N
c.223G>A
1 paper
NM_005233.6
p.S77ins1
c.229_230insTTA
2 papers
NM_005233.6
p.H76H
c.228C>T
1 paper
NM_005233.6
p.M74I
c.222G>A
1 paper
NM_005233.6
p.M74I
c.222G>C
1 paper
NM_005233.6
p.M74I
c.222G>T
1 paper
NM_005233.6
p.M74T
c.221T>C
1 paper
NM_005233.6
p.V73V
c.219C>A
1 paper
NM_005233.6
p.V73V
c.219C>G
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