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

12 papers

NM_005232.5

p.V160A

c.479T>C

Surrounding Variants

1 paper

NM_005232.5

p.V160V

c.480G>T

1 paper

NM_005232.5

p.L159F

c.475C>T

1 paper

NM_005232.5

p.I156_R157delFs

c.468_469delGA

2 papers

NM_005232.5

p.I156V

c.466A>G

1 paper

NM_005232.5

p.R170C

c.508C>T

1 paper

NM_005232.5

p.C171Y

c.512G>A

1 paper

NM_005232.5

p.V148G

c.443T>G

1 paper

NM_005232.5

p.V148M

c.442G>A

1 paper

NM_005232.5

p.T147M

c.440C>T

2 papers

NM_005232.5

p.R175C

c.523C>T

1 paper

NM_005232.5

p.R175P

c.524G>C

2 papers

NM_005232.5

p.R175H

c.524G>A