Varaico: Literature-Extracted Genetic Variants

EPHA2

548 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 29–201UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 202–262UCSCEphrin cysteine rich domain

fn3aa 330–429UCSCFibronectin type III domain

fn3aa 437–525UCSCFibronectin type III domain

EphA2_TMaa 537–610UCSCEphrin type-A receptor 2 transmembrane domain

PK_Tyr_Ser-Thraa 613–871UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

EPH receptor A2

HGNC Previous Symbol

ECK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004431.5

p.I846V

c.2536A>G

Surrounding Variants

1 paper

NM_004431.5

p.I846T

c.2537T>C

1 paper

NM_004431.5

p.A845A

c.2535C>T

1 paper

NM_004431.5

p.Y847H

c.2539T>C

1 paper

NM_004431.5

p.S844S

c.2532C>T

1 paper

NM_004431.5

p.S844F

c.2531C>T

1 paper

NM_004431.5

p.Q848R

c.2543A>G

1 paper

NM_004431.5

p.Q848Q

c.2544G>A

1 paper

NM_004431.5

p.P843S

c.2527C>T

1 paper

NM_004431.5

p.L849P

c.2546T>C

1 paper

NM_004431.5

p.C842Y

c.2525G>A

1 paper

NM_004431.5

p.M850T

c.2549T>C

1 paper

NM_004431.5

p.M850I

c.2550G>A