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

11 papers

NM_004431.5

p.R890C

c.2668C>T

Surrounding Variants

2 papers

NM_004431.5

p.R890H

c.2669G>A

1 paper

NM_004431.5

p.R890Splc

c.2669+1G>A

1 paper

NM_004431.5

p.P889S

c.2665C>T

1 paper

NM_004431.5

p.D888G

c.2663A>G

1 paper

NM_004431.5

p.D888N

c.2662G>A

1 paper

NM_004431.5

p.D886G

c.2657A>G

2 papers

NM_004431.5

p.D886N

c.2656G>A

1 paper

NM_004431.5

p.A885A

c.2655T>C

1 paper

NM_004431.5

p.A885T

c.2653G>A

1 paper

NM_004431.5

p.T883A

c.2647A>G

1 paper

NM_004431.5

p.K882K

c.2646G>A

1 paper

NM_004431.5

p.L881F

c.2641C>T