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.A795S

c.2383G>T

Surrounding Variants

2 papers

NM_005233.6

p.P793Q

c.2378C>A

1 paper

NM_005233.6

p.P793R

c.2378C>G

1 paper

NM_005233.6

p.A797G

c.2390C>G

1 paper

NM_005233.6

p.S792L

c.2375C>T

2 papers

NM_005233.6

p.S792P

c.2374T>C

1 paper

NM_005233.6

p.Y798F

c.2393A>T

2 papers

NM_005233.6

p.W790*

c.2370G>A

1 paper

NM_005233.6

p.R799H

c.2396G>A

2 papers

NM_005233.6

p.W790C

c.2370G>C

2 papers

NM_005233.6

p.W790C

c.2370G>T

1 paper

NM_005233.6

p.W790*

c.2369G>A

1 paper

NM_005233.6

p.K800T

c.2399A>C