Varaico: Literature-Extracted Genetic Variants

EPHA1

256 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 28–204UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 205–264UCSCEphrin cysteine rich domain

Ephrin_rec_likeaa 267–312UCSCTyrosine-protein kinase ephrin type A/B receptor-like

fn3aa 334–437UCSCFibronectin type III domain

fn3aa 450–534UCSCFibronectin type III domain

EphA2_TMaa 548–621UCSCEphrin type-A receptor 2 transmembrane domain

Gene Aliases

HGNC Name

EPH receptor A1

HGNC Previous Symbols

EPHT; EPHT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

9 papers

NM_005232.5

p.M900V

c.2698A>G

Surrounding Variants

1 paper

NM_005232.5

p.G912E

c.2735G>A

2 papers

NM_005232.5

p.P914P

c.2742A>G

1 paper

NM_005232.5

p.R916*

c.2746C>T

1 paper

NM_005232.5

p.L922F

c.2764C>T

1 paper

NM_005232.5

p.R926C

c.2776C>T

1 paper

NM_005232.5

p.R926G

c.2776C>G

1 paper

NM_005232.5

p.M927V

c.2779A>G

1 paper

NM_005232.5

p.R929C

c.2785C>T

1 paper

NM_005232.5

p.R929H

c.2786G>A

1 paper

NM_005232.5

p.G957A

c.2870G>C

1 paper

NM_005232.5

p.I958I

c.2874C>T

1 paper

NM_005232.5

p.H963H

c.2889C>T