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.G722R

c.2164G>C

Surrounding Variants

1 paper

NM_004431.5

p.G722S

c.2164G>A

1 paper

NM_004431.5

p.G722D

c.2165G>A

1 paper

NM_004431.5

p.R721R

c.2163G>A

1 paper

NM_004431.5

p.R721insFs

c.2162_2163insT

15 papers

NM_004431.5

p.R721Q

c.2162G>A

1 paper

NM_004431.5

p.G722fs

c.2164_2165fs

1 paper

NM_004431.5

p.G722Fs

c.2164_2165delinsGFs

1 paper

NM_004431.5

p.G722delFs

c.2164_2165delCC

3 papers

NM_004431.5

p.R721W

c.2161C>T

1 paper

NM_004431.5

p.I723T

c.2168T>C

1 paper

NM_004431.5

p.L720P

c.2159T>C

1 paper

NM_004431.5

p.A724T

c.2170G>A