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.L527P

c.1580T>C

Surrounding Variants

1 paper

NM_004431.5

p.L527L

c.1581G>A

1 paper

NM_004431.5

p.S528P

c.1582T>C

1 paper

NM_004431.5

p.T526T

c.1578G>A

6 papers

NM_004431.5

p.T526M

c.1577C>T

1 paper

NM_004431.5

p.T526A

c.1576A>G

1 paper

NM_004431.5

p.Q525R

c.1574A>G

2 papers

NM_004431.5

p.Q525*

c.1573C>T

1 paper

NM_004431.5

p.F524L

c.1572C>G

1 paper

NM_004431.5

p.F524L

c.1572C>A

1 paper

NM_004431.5

p.F524L

c.1570T>C

1 paper

NM_004431.5

p.E523G

c.1568A>G

1 paper

NM_004431.5

p.E523_F524insG

c.1567_1571ins3