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

2 papers

NM_005233.6

p.R750L

c.2249G>T

Surrounding Variants

2 papers

NM_005233.6

p.R750Q

c.2249G>A

1 paper

NM_005233.6

p.R750W

c.2248C>T

1 paper

NM_005233.6

p.A749D

c.2246C>A

1 paper

NM_005233.6

p.A748V

c.2243C>T

3 papers

NM_005233.6

p.A748T

c.2242G>A

1 paper

NM_005233.6

p.L747V

c.2239C>G

1 paper

NM_005233.6

p.D746N

c.2236G>A

2 papers

NM_005233.6

p.D746Y

c.2236G>T

1 paper

NM_005233.6

p.D746_R750del0

c.2236_2250del15

1 paper

NM_005233.6

p.R745Q

c.2234G>A

1 paper

NM_005233.6

p.R745R

c.2233C>A

1 paper

NM_005233.6

p.N755K

c.2265C>A