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.P591P

c.1773A>C

Surrounding Variants

1 paper

NM_020526.5

p.P600L

c.1799C>T

7 papers

NM_020526.5

p.P607H

c.1820C>A

1 paper

NM_020526.5

p.Q608*

c.1822C>T

1 paper

NM_020526.5

p.A611S

c.1831G>T

4 papers

NM_020526.5

p.E612Q

c.1834G>C

1 paper

NM_020526.5

p.Y616S

c.1847A>C

1 paper

NM_020526.5

p.G620V

c.1859G>T

1 paper

NM_020526.5

p.R634M

c.1901G>T

2 papers

NM_020526.5

p.G642S

c.1924G>A

1 paper

NM_020526.5

p.G647R

c.1939G>A

1 paper

NM_020526.5

p.G647R

c.1939G>C

1 paper

NM_020526.5

p.D661H

c.1981G>C