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.V231I

c.691G>A

Surrounding Variants

1 paper

NM_005233.6

p.V231D

c.692T>A

1 paper

NM_005233.6

p.C230R

c.688T>C

1 paper

NM_005233.6

p.N232T

c.695A>C

2 papers

NM_005233.6

p.N232S

c.695A>G

1 paper

NM_005233.6

p.N232I

c.695A>T

4 papers

NM_005233.6

p.S229Y

c.686C>A

1 paper

NM_005233.6

p.N233S

c.698A>G

2 papers

NM_005233.6

p.G228R

c.682G>A

2 papers

NM_005233.6

p.G228R

c.682G>C

2 papers

NM_005233.6

p.G228W

c.682G>T

1 paper

NM_005233.6

p.S234P

c.700T>C

1 paper

NM_005233.6

p.S234A

c.700T>G