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.Y96delFs

c.287delA

Surrounding Variants

1 paper

NM_005233.6

p.Y96fs

c.286_287fs

1 paper

NM_005233.6

p.I95N

c.284T>A

2 papers

NM_005233.6

p.V97L

c.289G>C

2 papers

NM_005233.6

p.V97L

c.289G>T

1 paper

NM_005233.6

p.K94K

c.282G>A

1 paper

NM_005233.6

p.K94N

c.282G>C

1 paper

NM_005233.6

p.K94N

c.282G>T

1 paper

NM_005233.6

p.K94T

c.281A>C

1 paper

NM_005233.6

p.K94R

c.281A>G

1 paper

NM_005233.6

p.E98A

c.293A>C

1 paper

NM_005233.6

p.E98V

c.293A>T

1 paper

NM_005233.6

p.Q93L

c.278A>T