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

2 papers

NM_005232.5

p.P110S

c.328C>T

Surrounding Variants

1 paper

NM_005232.5

p.F109S

c.326T>C

1 paper

NM_005232.5

p.G114R

c.340G>C

1 paper

NM_005232.5

p.G114R

c.340G>A

1 paper

NM_005232.5

p.T102I

c.305C>T

1 paper

NM_005232.5

p.T102N

c.305C>A

1 paper

NM_005232.5

p.L99M

c.295C>A

1 paper

NM_005232.5

p.E98K

c.292G>A

1 paper

NM_005232.5

p.V97M

c.289G>A

1 paper

NM_005232.5

p.L124P

c.371T>C

1 paper

NM_005232.5

p.E128D

c.384G>T

1 paper

NM_005232.5

p.E128D

c.384G>C

1 paper

NM_005232.5

p.S129T

c.386G>C