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.S46T

c.136T>A

Surrounding Variants

1 paper

NM_005233.6

p.S46A

c.136T>G

1 paper

NM_005233.6

p.S46C

c.137C>G

3 papers

NM_005233.6

p.S46F

c.137C>T

1 paper

NM_005233.6

p.I45V

c.133A>G

2 papers

NM_005233.6

p.I45F

c.133A>T

3 papers

NM_005233.6

p.W44C

c.132G>C

3 papers

NM_005233.6

p.W44C

c.132G>T

1 paper

NM_005233.6

p.W44S

c.131G>C

2 papers

NM_005233.6

p.P48S

c.142C>T

1 paper

NM_005233.6

p.P48Q

c.143C>A

1 paper

NM_005233.6

p.G43D

c.128G>A

1 paper

NM_005233.6

p.G43A

c.128G>C