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.S947delFs

c.2841delC

Surrounding Variants

1 paper

NM_005233.6

p.S947fs

c.2839_2840fs

2 papers

NM_005233.6

p.S947Y

c.2840C>A

1 paper

NM_005233.6

p.S947delins

c.2840_2841delinsAA

1 paper

NM_005233.6

p.I946S

c.2837T>G

1 paper

NM_005233.6

p.D949N

c.2845G>A

1 paper

NM_005233.6

p.D949Y

c.2845G>T

1 paper

NM_005233.6

p.A944A

c.2832C>A

1 paper

NM_005233.6

p.I943V

c.2827A>G

1 paper

NM_005233.6

p.D949Splc

c.2846+5G>T

1 paper

NM_005233.6

p.C940_D941delins

c.2820_2821delinsGT

1 paper

NM_005233.6

p.C940F

c.2819G>T

1 paper

NM_005233.6

p.Y937C

c.2810A>G