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.V724L

c.2170G>C

Surrounding Variants

1 paper

NM_005233.6

p.V724L

c.2170G>T

1 paper

NM_005233.6

p.L723L

c.2169A>T

1 paper

NM_005233.6

p.L723V

c.2167C>G

1 paper

NM_005233.6

p.G725W

c.2173G>T

1 paper

NM_005233.6

p.G725V

c.2174G>T

1 paper

NM_005233.6

p.Q722*

c.2164C>T

1 paper

NM_005233.6

p.I721V

c.2161A>G

3 papers

NM_005233.6

p.R728*

c.2182C>T

1 paper

NM_005233.6

p.R728Q

c.2183G>A

5 papers

NM_005233.6

p.R728L

c.2183G>T

1 paper

NM_005233.6

p.T719P

c.2155A>C

1 paper

NM_005233.6

p.G729R

c.2185G>A