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

1–12 of 219 variants

12 papers

NM_005232.5

p.V160A

c.479T>C

12 papers

NM_005232.5

p.P460L

c.1379C>T

10 papers

NM_005232.5

p.R492Q

c.1475G>A

9 papers

NM_005232.5

p.M900V

c.2698A>G

7 papers

NM_005232.5

p.P697L

c.2090C>T

5 papers

NM_005232.5

p.V600E

c.1799T>A

4 papers

NM_005232.5

p.R471Q

c.1412G>A

3 papers

NM_005232.5

p.R24H

c.71G>A

3 papers

NM_005232.5

p.R337Q

c.1010G>A

3 papers

NM_005232.5

p.V514I

c.1540G>A

3 papers

NM_005232.5

p.R584C

c.1750C>T

2 papers

NM_005232.5

p.A23A

c.69G>T