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

2 papers

NM_020526.5

p.G160S

c.478G>A

Surrounding Variants

1 paper

NM_020526.5

p.L159I

c.475C>A

1 paper

NM_020526.5

p.A157A

c.471C>T

1 paper

NM_020526.5

p.K165E

c.493A>G

1 paper

NM_020526.5

p.D151E

c.453C>A

1 paper

NM_020526.5

p.D151E

c.453C>G

1 paper

NM_020526.5

p.E169A

c.506A>C

1 paper

NM_020526.5

p.R171H

c.512G>A

1 paper

NM_020526.5

p.G174S

c.520G>A

1 paper

NM_020526.5

p.P175L

c.524C>T

1 paper

NM_020526.5

p.S177R

c.529A>C

1 paper

NM_020526.5

p.S177R

c.531C>A

1 paper

NM_020526.5

p.S177R

c.531C>G