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.N165K

c.495C>G

Surrounding Variants

1 paper

NM_005233.6

p.N165K

c.495C>A

1 paper

NM_005233.6

p.T166P

c.496A>C

1 paper

NM_005233.6

p.T166A

c.496A>G

1 paper

NM_005233.6

p.N165_T166insT

c.493_497ins3

4 papers

NM_005233.6

p.T166N

c.497C>A

1 paper

NM_005233.6

p.E167K

c.499G>A

1 paper

NM_005233.6

p.E167Q

c.499G>C

1 paper

NM_005233.6

p.K163N

c.489G>C

1 paper

NM_005233.6

p.K163N

c.489G>T

1 paper

NM_005233.6

p.I168N

c.503T>A

1 paper

NM_005233.6

p.L162R

c.485T>G

1 paper

NM_005233.6

p.R160H

c.479G>A