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.Q581R

c.1742A>G

Surrounding Variants

1 paper

NM_004431.5

p.E580E

c.1740A>G

1 paper

NM_004431.5

p.E580G

c.1739A>G

1 paper

NM_004431.5

p.E580K

c.1738G>A

1 paper

NM_004431.5

p.K583E

c.1747A>G

1 paper

NM_004431.5

p.E580Splc

c.1739-2A>G

1 paper

NM_004431.5

p.K583R

c.1748A>G

1 paper

NM_004431.5

p.P584S

c.1750C>T

1 paper

NM_004431.5

p.P584T

c.1750C>A

13 papers

NM_004431.5

p.P584L

c.1751C>T

1 paper

NM_004431.5

p.L585fs

c.1753_1754fs

1 paper

NM_004431.5

p.L585delFs

c.1754delA

1 paper

NM_004431.5

p.K586E

c.1756A>G