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.M918T

c.2753T>C

Surrounding Variants

1 paper

NM_004431.5

p.M918L

c.2752A>T

1 paper

NM_004431.5

p.M918V

c.2752A>G

1 paper

NM_004431.5

p.M918L

c.2752A>C

1 paper

NM_004431.5

p.K917K

c.2751G>A

1 paper

NM_004431.5

p.Q919*

c.2755C>T

1 paper

NM_004431.5

p.Q919R

c.2756A>G

1 paper

NM_004431.5

p.K917R

c.2750A>G

1 paper

NM_004431.5

p.Q919Q

c.2757G>A

1 paper

NM_004431.5

p.K917E

c.2749A>G

1 paper

NM_001329090.2

p.I862I

c.2586C>T

NM_004431.5

p.I916I

c.2748C>T

1 paper

NM_004431.5

p.Q920Q

c.2760G>A

1 paper

NM_004431.5

p.I916V

c.2746A>G