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

2 papers

NM_005233.6

p.V206M

c.616G>A

Surrounding Variants

1 paper

NM_005233.6

p.K207E

c.619A>G

2 papers

NM_005233.6

p.K207R

c.620A>G

1 paper

NM_005233.6

p.F204L

c.612T>A

6 papers

NM_005233.6

p.K207N

c.621G>C

6 papers

NM_005233.6

p.K207N

c.621G>T

3 papers

NM_005233.6

p.P203Q

c.608C>A

1 paper

NM_005233.6

p.P203L

c.608C>T

1 paper

NM_005233.6

p.L209L

c.625C>T

2 papers

NM_005233.6

p.C202*

c.606C>A

1 paper

NM_005233.6

p.C202F

c.605G>T

1 paper

NM_005233.6

p.A210T

c.628G>A

1 paper

NM_005233.6

p.A210P

c.628G>C