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.E816D

c.2448G>T

Surrounding Variants

1 paper

NM_005233.6

p.E816D

c.2448G>C

1 paper

NM_005233.6

p.V817L

c.2449G>C

1 paper

NM_005233.6

p.V817L

c.2449G>T

1 paper

NM_005233.6

p.M818V

c.2452A>G

1 paper

NM_005233.6

p.Y820F

c.2459A>T

1 paper

NM_005233.6

p.G821V

c.2462G>T

1 paper

NM_005233.6

p.E822A

c.2465A>C

2 papers

NM_005233.6

p.E822D

c.2466G>C

2 papers

NM_005233.6

p.E822D

c.2466G>T

1 paper

NM_005233.6

p.Y810F

c.2429A>T

1 paper

NM_005233.6

p.R823*

c.2467A>T

1 paper

NM_005233.6

p.R823I

c.2468G>T