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.A517A

c.1551C>T

Surrounding Variants

1 paper

NM_004431.5

p.A517fs

c.1549_1550fs

1 paper

NM_004431.5

p.G518S

c.1552G>A

1 paper

NM_004431.5

p.A517insFs

c.1549dupG

1 paper

NM_004431.5

p.G518V

c.1553G>T

4 papers

NM_004431.5

p.Q515L

c.1544A>T

1 paper

NM_004431.5

p.Q515R

c.1544A>G

1 paper

NM_004431.5

p.E513K

c.1537G>A

1 paper

NM_004431.5

p.H522R

c.1565A>G

1 paper

NM_004431.5

p.E523_F524insG

c.1567_1571ins3

1 paper

NM_004431.5

p.E523G

c.1568A>G

1 paper

NM_004431.5

p.F524L

c.1570T>C

20 papers

NM_004431.5

p.T511M

c.1532C>T