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.E902E

c.2706G>A

Surrounding Variants

1 paper

NM_004431.5

p.G903R

c.2707G>C

1 paper

NM_004431.5

p.G903R

c.2707G>A

1 paper

NM_004431.5

p.G903E

c.2708G>A

1 paper

NM_004431.5

p.G903G

c.2709G>A

1 paper

NM_004431.5

p.S901S

c.2703G>A

1 paper

NM_004431.5

p.V904fs

c.2710_2711fs

2 papers

NM_004431.5

p.S901L

c.2702C>T

1 paper

NM_004431.5

p.V904G

c.2711T>G

1 paper

NM_004431.5

p.S901A

c.2701T>G

3 papers

NM_004431.5

p.V904delFs

c.2710delC

2 papers

NM_004431.5

p.V904fs

c.2710_2711fs

1 paper

NM_004431.5

p.G900D

c.2699G>A