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.V15D

c.44T>A

Surrounding Variants

1 paper

NM_005233.6

p.V15L

c.43G>C

1 paper

NM_005233.6

p.L16I

c.46C>A

1 paper

NM_005233.6

p.S14Y

c.41C>A

1 paper

NM_005233.6

p.L16H

c.47T>A

2 papers

NM_005233.6

p.L16P

c.47T>C

1 paper

NM_005233.6

p.D17H

c.49G>C

2 papers

NM_005233.6

p.D17insFs

c.50dupA

1 paper

NM_005233.6

p.D17A

c.50A>C

2 papers

NM_005233.6

p.S12R

c.36C>A

1 paper

NM_005233.6

p.S12N

c.35G>A

1 paper

NM_005233.6

p.S18N

c.53G>A

1 paper

NM_005233.6

p.S18T

c.53G>C