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.E930G

c.2789A>G

Surrounding Variants

2 papers

NM_005233.6

p.E930K

c.2788G>A

1 paper

NM_005233.6

p.K929_C940del12

c.2785_2819del36

1 paper

NM_005233.6

p.T933P

c.2797A>C

4 papers

NM_005233.6

p.T933M

c.2798C>T

3 papers

NM_005233.6

p.G934G

c.2802T>C

1 paper

NM_005233.6

p.V935L

c.2803G>C

1 paper

NM_005233.6

p.V935insFs

c.2804dupT

1 paper

NM_005233.6

p.V935L

c.2803G>T

1 paper

NM_005233.6

p.V935A

c.2804T>C

2 papers

NM_005233.6

p.W924*

c.2772G>A

1 paper

NM_005233.6

p.W924C

c.2772G>C

1 paper

NM_005233.6

p.W924C

c.2772G>T