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

7 papers

NM_005233.6

p.P173L

c.518C>T

Surrounding Variants

1 paper

NM_005233.6

p.P173fs

c.517_518fs

1 paper

NM_005233.6

p.V174F

c.520G>T

2 papers

NM_005233.6

p.V174A

c.521T>C

2 papers

NM_005233.6

p.G172R

c.514G>C

1 paper

NM_005233.6

p.G178R

c.532G>A

1 paper

NM_005233.6

p.G178R

c.532G>C

1 paper

NM_005233.6

p.I168N

c.503T>A

1 paper

NM_005233.6

p.E167K

c.499G>A

1 paper

NM_005233.6

p.E167Q

c.499G>C

1 paper

NM_005233.6

p.Y180F

c.539A>T

4 papers

NM_005233.6

p.T166N

c.497C>A

1 paper

NM_005233.6

p.T166P

c.496A>C