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.H609H

c.1827T>C

Surrounding Variants

1 paper

NM_004431.5

p.H609Y

c.1825C>T

1 paper

NM_004431.5

p.I608I

c.1824C>T

1 paper

NM_004431.5

p.S611P

c.1831T>C

1 paper

NM_004431.5

p.I608T

c.1823T>C

4 papers

NM_004431.5

p.I608N

c.1823T>A

1 paper

NM_004431.5

p.E607_P610del4

c.1819_1829del12

1 paper

NM_004431.5

p.I608V

c.1822A>G

1 paper

NM_004431.5

p.E607E

c.1821G>A

1 paper

NM_004431.5

p.S611S

c.1833C>T

1 paper

NM_004431.5

p.C612R

c.1834T>C

1 paper

NM_004431.5

p.E607G

c.1820A>G

1 paper

NM_004431.5

p.E607A

c.1820A>C