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.F925L

c.2775C>A

Surrounding Variants

1 paper

NM_004431.5

p.F925L

c.2775C>G

1 paper

NM_004431.5

p.F925S

c.2774T>C

1 paper

NM_004431.5

p.F925L

c.2773T>C

4 papers

NM_004431.5

p.M926K

c.2777T>A

1 paper

NM_004431.5

p.H924H

c.2772C>T

1 paper

NM_004431.5

p.H924R

c.2771A>G

2 papers

NM_004431.5

p.A927V

c.2780C>T

1 paper

NM_004431.5

p.A928T

c.2782G>A

1 paper

NM_004431.5

p.E923G

c.2768A>G

1 paper

NM_004431.5

p.E923K

c.2767G>A

2 papers

NM_004431.5

p.A928V

c.2783C>T

1 paper

NM_004431.5

p.A928D

c.2783C>A