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.P21P

c.63G>C

Surrounding Variants

1 paper

NM_005232.5

p.P21P

c.63G>T

2 papers

NM_005232.5

p.A23A

c.69G>T

3 papers

NM_005232.5

p.R24H

c.71G>A

1 paper

NM_005232.5

p.L14Q

c.41T>A

1 paper

NM_005232.5

p.T33I

c.98C>T

1 paper

NM_005232.5

p.S34S

c.102C>T

1 paper

NM_005232.5

p.P62H

c.185C>A

1 paper

NM_005232.5

p.N84S

c.251A>G

1 paper

NM_005232.5

p.I86F

c.256A>T

1 paper

NM_005232.5

p.Y87C

c.260A>G

2 papers

NM_005232.5

p.R88H

c.263G>A

1 paper

NM_005232.5

p.G89R

c.265G>C