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.D943G

c.2828A>G

Surrounding Variants

4 papers

NM_004431.5

p.D943V

c.2828A>T

3 papers

NM_004431.5

p.D943N

c.2827G>A

1 paper

NM_004431.5

p.D943D

c.2829C>T

1 paper

NM_004431.5

p.D943fs

c.2827_2828fs

1 paper

NM_004431.5

p.D942D

c.2826C>T

3 papers

NM_004431.5

p.D942E

c.2826C>G

3 papers

NM_004431.5

p.D942E

c.2826C>A

2 papers

NM_004431.5

p.I944V

c.2830A>G

1 paper

NM_004431.5

p.D942Splc

c.2826-1G>A

1 paper

NM_004431.5

p.D942G

c.2825A>G

2 papers

NM_004431.5

p.D942Y

c.2824G>T

3 papers

NM_004431.5

p.D942N

c.2824G>A