Varaico: Literature-Extracted Genetic Variants

EPHA8

176 papers

RefSeq Summary

This gene encodes a member of the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in...

Pfam Domains

Ephrin_lbdaa 32–204UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 205–262UCSCEphrin cysteine rich domain

fn3aa 328–429UCSCFibronectin type III domain

fn3aa 438–530UCSCFibronectin type III domain

EphA2_TMaa 543–632UCSCEphrin type-A receptor 2 transmembrane domain

PK_Tyr_Ser-Thraa 635–892UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

EPH receptor A8

HGNC Previous Symbol

EEK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020526.5

p.L502P

c.1505T>C

Surrounding Variants

1 paper

NM_020526.5

p.L502H

c.1505T>A

1 paper

NM_020526.5

p.Y508Y

c.1524C>T

1 paper

NM_020526.5

p.V493I

c.1477G>A

2 papers

NM_020526.5

p.Q525R

c.1574A>G

1 paper

NM_020526.5

p.Y473*

c.1419T>A

1 paper

NM_020526.5

p.Y473*

c.1419T>G

1 paper

NM_020526.5

p.G468G

c.1404C>T

2 papers

NM_020526.5

p.N467N

c.1401C>T

1 paper

NM_020526.5

p.E464G

c.1391A>G

1 paper

NM_020526.5

p.E464K

c.1390G>A

1 paper

NM_020526.5

p.E462G

c.1385A>G

4 papers

NM_020526.5

p.S457P

c.1369T>C