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

3 papers

NM_004431.5

p.S790F

c.2369C>T

Surrounding Variants

1 paper

NM_004431.5

p.S790P

c.2368T>C

1 paper

NM_004431.5

p.S790S

c.2370C>T

1 paper

NM_004431.5

p.R792W

c.2374C>T

1 paper

NM_004431.5

p.A788T

c.2362G>A

1 paper

NM_004431.5

p.P786_E787del2

c.2356_2360del6

1 paper

NM_004431.5

p.E787E

c.2361G>A

1 paper

NM_004431.5

p.K793K

c.2379G>A

1 paper

NM_004431.5

p.F794L

c.2380T>C

1 paper

NM_004431.5

p.P786fs

c.2356_2357fs

1 paper

NM_004431.5

p.F794S

c.2381T>C

1 paper

NM_004431.5

p.P786L

c.2357C>T

1 paper

NM_004431.5

p.F794F

c.2382C>T