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.N80D

c.238A>G

Surrounding Variants

3 papers

NM_005233.6

p.N79T

c.236A>C

1 paper

NM_005233.6

p.N79D

c.235A>G

1 paper

NM_005233.6

p.Q78H

c.234A>C

1 paper

NM_005233.6

p.Q78Q

c.234A>G

1 paper

NM_005233.6

p.Q78H

c.234A>T

1 paper

NM_005233.6

p.Q78ins1

c.233_234insTTG

1 paper

NM_005233.6

p.Q78R

c.233A>G

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.H76L

c.227A>T

2 papers

NM_005233.6

p.T84A

c.250A>G

1 paper

NM_005233.6

p.H76N

c.226C>A