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.Y385H

c.1153T>C

Surrounding Variants

1 paper

NM_004431.5

p.R384R

c.1152C>T

1 paper

NM_004431.5

p.R384H

c.1151G>A

1 paper

NM_004431.5

p.S386P

c.1156T>C

1 paper

NM_004431.5

p.S386T

c.1156T>A

2 papers

NM_004431.5

p.R384C

c.1150C>T

1 paper

NM_001329090.2

p.S332L

c.995C>T

NM_004431.5

p.S386L

c.1157C>T

1 paper

NM_004431.5

p.V383A

c.1148T>C

1 paper

NM_004431.5

p.S386S

c.1158G>A

2 papers

NM_004431.5

p.V383M

c.1147G>A

1 paper

NM_004431.5

p.E387G

c.1160A>G

1 paper

NM_004431.5

p.S382I

c.1145G>T

1 paper

NM_004431.5

p.P388S

c.1162C>T