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.Y512*

c.1536C>A

Surrounding Variants

1 paper

NM_005232.5

p.Y512*

c.1536C>G

3 papers

NM_005232.5

p.V514I

c.1540G>A

1 paper

NM_005232.5

p.T511I

c.1532C>T

1 paper

NM_005232.5

p.R515S

c.1545A>T

1 paper

NM_005232.5

p.R515S

c.1545A>C

1 paper

NM_005232.5

p.E505A

c.1514A>C

1 paper

NM_005232.5

p.M495I

c.1485G>T

1 paper

NM_005232.5

p.M495I

c.1485G>C

1 paper

NM_005232.5

p.M495I

c.1485G>A

1 paper

NM_005232.5

p.Q494H

c.1482G>T

1 paper

NM_005232.5

p.Q494H

c.1482G>C

10 papers

NM_005232.5

p.R492Q

c.1475G>A