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.G973G

c.2919G>A

Surrounding Variants

1 paper

NM_004431.5

p.I974T

c.2921T>C

1 paper

NM_004431.5

p.I974N

c.2921T>A

11 papers

NM_004431.5

p.V972delFs

c.2915_2916delCA

1 paper

NM_004431.5

p.V972V

c.2916G>A

1 paper

NM_004431.5

p.V972G

c.2915T>G

1 paper

NM_004431.5

p.V972A

c.2915T>C

1 paper

NM_004431.5

p.V972fs

c.2914_2915fs

1 paper

NM_004431.5

p.P975L

c.2924C>T

1 paper

NM_004431.5

p.T971T

c.2913T>A

1 paper

NM_004431.5

p.P975P

c.2925C>T

1 paper

NM_004431.5

p.I976fs

c.2926_2927fs

5 papers

NM_004431.5

p.P975insFs

c.2925dupC