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.R590*

c.1768C>T

Surrounding Variants

1 paper

NM_005232.5

p.E591Splc

c.1771+7C>T

3 papers

NM_005232.5

p.R584C

c.1750C>T

1 paper

NM_005232.5

p.R584S

c.1750C>A

1 paper

NM_005232.5

p.R572I

c.1715G>T

2 papers

NM_005232.5

p.V567I

c.1699G>A

1 paper

NM_005232.5

p.L561M

c.1681T>A

1 paper

NM_005232.5

p.G558_A559insC

c.1672_1676ins3

1 paper

NM_005232.5

p.I552L

c.1654A>C

1 paper

NM_005232.5

p.E547D

c.1641G>T

1 paper

NM_005232.5

p.E547D

c.1641G>C

1 paper

NM_005232.5

p.R534W

c.1600C>T

1 paper

NM_005232.5

p.R515S

c.1545A>T