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.E820G

c.2459A>G

Surrounding Variants

1 paper

NM_004431.5

p.E820K

c.2458G>A

1 paper

NM_004431.5

p.W819*

c.2457G>A

1 paper

NM_004431.5

p.L821S

c.2462T>C

1 paper

NM_004431.5

p.W819*

c.2456G>A

1 paper

NM_004431.5

p.S822P

c.2464T>C

1 paper

NM_004431.5

p.S822F

c.2465C>T

1 paper

NM_004431.5

p.P817P

c.2451C>T

1 paper

NM_004431.5

p.P817L

c.2450C>T

1 paper

NM_004431.5

p.P817H

c.2450C>A

1 paper

NM_004431.5

p.N823S

c.2468A>G

1 paper

NM_004431.5

p.N823N

c.2469C>T

1 paper

NM_004431.5

p.H824Y

c.2470C>T