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.A674G

c.2021C>G

Surrounding Variants

1 paper

NM_005232.5

p.E673D

c.2019G>T

1 paper

NM_005232.5

p.E673D

c.2019G>C

1 paper

NM_005232.5

p.M677V

c.2029A>G

1 paper

NM_005232.5

p.G678D

c.2033G>A

1 paper

NM_005232.5

p.Q679R

c.2036A>G

1 paper

NM_005232.5

p.W668*

c.2003G>A

1 paper

NM_005232.5

p.W667*

c.2001G>A

1 paper

NM_005232.5

p.W667*

c.2000G>A

1 paper

NM_005232.5

p.H682Y

c.2044C>T

2 papers

NM_005232.5

p.P683P

c.2049G>A

1 paper

NM_005232.5

p.K656R

c.1967A>G

1 paper

NM_005232.5

p.R644K

c.1931G>A