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.C369R

c.1105T>C

Surrounding Variants

1 paper

NM_004431.5

p.Q368Q

c.1104G>A

1 paper

NM_004431.5

p.C369C

c.1107C>T

1 paper

NM_004431.5

p.Q368R

c.1103A>G

1 paper

NM_004431.5

p.Q368*

c.1102C>T

1 paper

NM_004431.5

p.W370*

c.1109G>A

1 paper

NM_004431.5

p.E367E

c.1101A>G

1 paper

NM_004431.5

p.W370*

c.1110G>A

1 paper

NM_004431.5

p.E367G

c.1100A>G

2 papers

NM_004431.5

p.E367K

c.1099G>A

1 paper

NM_004431.5

p.C366C

c.1098C>T

1 paper

NM_004431.5

p.C366Y

c.1097G>A

1 paper

NM_004431.5

p.P371P

c.1113C>A