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

2 papers

NM_004431.5

p.R957H

c.2870G>A

Surrounding Variants

2 papers

NM_004431.5

p.R957P

c.2870G>C

4 papers

NM_004431.5

p.R957C

c.2869C>T

1 paper

NM_004431.5

p.I958V

c.2872A>G

1 paper

NM_004431.5

p.K956R

c.2867A>G

7 papers

NM_004431.5

p.I958I

c.2874C>T

2 papers

NM_004431.5

p.K956E

c.2866A>G

13 papers

NM_004431.5

p.A959T

c.2875G>A

1 paper

NM_004431.5

p.Q955Q

c.2865G>A

2 papers

NM_004431.5

p.Q955P

c.2864A>C

1 paper

NM_001329090.2

p.A905A

c.2715C>T

1 paper

NM_004431.5

p.Q955*

c.2863C>T

1 paper

NM_004431.5

p.Y960N

c.2878T>A