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

3 papers

NM_005233.6

p.R241S

c.723G>T

Surrounding Variants

4 papers

NM_005233.6

p.R241S

c.723G>C

1 paper

NM_005233.6

p.R241K

c.722G>A

1 paper

NM_005233.6

p.R241T

c.722G>C

1 paper

NM_005233.6

p.R241M

c.722G>T

2 papers

NM_005233.6

p.R241G

c.721A>G

2 papers

NM_005233.6

p.M242K

c.725T>A

1 paper

NM_005233.6

p.P240Q

c.719C>A

1 paper

NM_005233.6

p.P240A

c.718C>G

1 paper

NM_005233.6

p.P240S

c.718C>T

1 paper

NM_005233.6

p.P239insFs

c.716_717insT

1 paper

NM_005233.6

p.P239L

c.716C>T

1 paper

NM_005233.6

p.C244F

c.731G>T