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.S222A

c.664T>G

Surrounding Variants

1 paper

NM_005233.6

p.Q221insFs

c.662_663insG

1 paper

NM_005233.6

p.L223M

c.667C>A

1 paper

NM_005233.6

p.L223L

c.669G>T

1 paper

NM_005233.6

p.V224E

c.671T>A

5 papers

NM_005233.6

p.D219V

c.656A>T

1 paper

NM_005233.6

p.E225E

c.675G>A

1 paper

NM_005233.6

p.V226G

c.677T>G

1 paper

NM_005233.6

p.V226V

c.678T>C

2 papers

NM_005233.6

p.R227*

c.679A>T

1 paper

NM_005233.6

p.P217T

c.649C>A

1 paper

NM_005233.6

p.P217A

c.649C>G

1 paper

NM_005233.6

p.V216V

c.648A>T