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.L335F

c.1003C>T

Surrounding Variants

1 paper

NM_004431.5

p.L335P

c.1004T>C

1 paper

NM_004431.5

p.Y334Y

c.1002C>T

1 paper

NM_004431.5

p.Y334fs

c.1000_1001fs

1 paper

NM_004431.5

p.L335L

c.1005C>T

1 paper

NM_004431.5

p.Y334C

c.1001A>G

1 paper

NM_004431.5

p.Y334H

c.1000T>C

2 papers

NM_004431.5

p.Y334fs

c.1000_1001fs

1 paper

NM_004431.5

p.T336T

c.1008A>G

1 paper

NM_004431.5

p.H333R

c.998A>G

1 paper

NM_004431.5

p.A337T

c.1009G>A

1 paper

NM_004431.5

p.P332P

c.996A>G

1 paper

NM_004431.5

p.P332P

c.996A>C