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.I7N

c.20T>A

Surrounding Variants

1 paper

NM_005233.6

p.S6S

c.18C>A

2 papers

NM_005233.6

p.S6C

c.17C>G

2 papers

NM_005233.6

p.L8P

c.23T>C

1 paper

NM_005233.6

p.S6T

c.16T>A

1 paper

NM_005233.6

p.L5L

c.15C>A

1 paper

NM_005233.6

p.L9H

c.26T>A

2 papers

NM_005233.6

p.L5insFs

c.14dupT

1 paper

NM_005233.6

p.L10F

c.28C>T

5 papers

NM_005233.6

p.Q4Q

c.12G>A

7 papers

NM_005233.6

p.Q4H

c.12G>C

1 paper

NM_005233.6

p.Q4R

c.11A>G

2 papers

NM_005233.6

p.L10H

c.29T>A