Varaico: Literature-Extracted Genetic Variants

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.G132V

c.395G>T

Surrounding Variants

3 papers

NM_005233.6

p.V133E

c.398T>A

1 paper

NM_005233.6

p.V133G

c.398T>G

2 papers

NM_005233.6

p.H131N

c.391C>A

1 paper

NM_005233.6

p.H131ins1

c.391_392insACA

1 paper

NM_005233.6

p.D130A

c.389A>C

1 paper

NM_005233.6

p.D130G

c.389A>G

2 papers

NM_005233.6

p.D130N

c.388G>A

1 paper

NM_005233.6

p.D129E

c.387T>A

1 paper

NM_005233.6

p.F135I

c.403T>A

2 papers

NM_005233.6

p.D129E

c.387T>G

1 paper

NM_005233.6

p.F135C

c.404T>G

9 papers

NM_005233.6

p.R136*

c.406C>T