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.V390E

c.1169T>A

Surrounding Variants

2 papers

NM_005232.5

p.V390M

c.1168G>A

1 paper

NM_005232.5

p.V388M

c.1162G>A

2 papers

NM_005232.5

p.S393L

c.1178C>T

1 paper

NM_005232.5

p.P394L

c.1181C>T

1 paper

NM_005232.5

p.C383fs

c.1147_1148fs

1 paper

NM_005232.5

p.G398W

c.1192G>T

1 paper

NM_005232.5

p.G381delFs

c.1143delC

1 paper

NM_005232.5

p.A403V

c.1208C>T

1 paper

NM_005232.5

p.Q374_G375insFs

c.1120_1123dup4

1 paper

NM_005232.5

p.H405delFs

c.1213delG

1 paper

NM_005232.5

p.H405fs

c.1213_1214fs

1 paper

NM_005232.5

p.Q372K

c.1114C>A