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.D832_V833Splc

c.2496+1G>A

Surrounding Variants

1 paper

NM_005233.6

p.D832A

c.2495A>C

2 papers

NM_005233.6

p.D832N

c.2494G>A

1 paper

NM_005233.6

p.N830T

c.2489A>C

1 paper

NM_005233.6

p.M828I

c.2484G>A

1 paper

NM_005233.6

p.E827D

c.2481G>C

1 paper

NM_005233.6

p.E827D

c.2481G>T

1 paper

NM_005233.6

p.Y825*

c.2475C>A

1 paper

NM_005233.6

p.Y825*

c.2475C>G

1 paper

NM_005233.6

p.Y825F

c.2474A>T

1 paper

NM_005233.6

p.R823I

c.2468G>T

1 paper

NM_005233.6

p.R823*

c.2467A>T

2 papers

NM_005233.6

p.E822D

c.2466G>C