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

3 papers

NM_005233.6

p.K785N

c.2355G>C

Surrounding Variants

3 papers

NM_005233.6

p.K785N

c.2355G>T

1 paper

NM_005233.6

p.K785E

c.2353A>G

1 paper

NM_005233.6

p.P787T

c.2359C>A

1 paper

NM_005233.6

p.G784E

c.2351G>A

1 paper

NM_005233.6

p.G784W

c.2350G>T

1 paper

NM_005233.6

p.G783V

c.2348G>T

1 paper

NM_005233.6

p.R782_G783Splc

c.2347-1G>C

1 paper

NM_005233.6

p.W790_T802del13

c.2368_2405del39

1 paper

NM_005233.6

p.W790*

c.2369G>A

2 papers

NM_005233.6

p.W790*

c.2370G>A

2 papers

NM_005233.6

p.W790C

c.2370G>C

2 papers

NM_005233.6

p.W790C

c.2370G>T