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

1 paper

NM_005232.5

p.H234P

c.701A>C

Surrounding Variants

1 paper

NM_005232.5

p.R240fs

c.718_719fs

1 paper

NM_005232.5

p.R240insFs

c.719dupG

2 papers

NM_005232.5

p.R240delFs

c.720delC

1 paper

NM_005232.5

p.G223A

c.668G>C

1 paper

NM_005232.5

p.P245H

c.734C>A

1 paper

NM_005232.5

p.M247I

c.741G>T

1 paper

NM_005232.5

p.M247I

c.741G>C

1 paper

NM_005232.5

p.M247I

c.741G>A

1 paper

NM_005232.5

p.C249_S250del0

c.745_750del6

1 paper

NM_005232.5

p.C249_P251del0

c.746_751del6

1 paper

NM_005232.5

p.D216D

c.648C>T

1 paper

NM_005232.5

p.E254K

c.760G>A