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.R292C

c.874C>T

Surrounding Variants

1 paper

NM_020526.5

p.K282E

c.844A>G

1 paper

NM_020526.5

p.Y281*

c.843C>A

1 paper

NM_020526.5

p.Y281*

c.843C>G

1 paper

NM_020526.5

p.F280L

c.840C>A

1 paper

NM_020526.5

p.F280L

c.840C>G

1 paper

NM_020526.5

p.F280L

c.838T>C

3 papers

NM_020526.5

p.P321L

c.962C>T

1 paper

NM_020526.5

p.T326I

c.977C>T

2 papers

NM_020526.5

p.S337C

c.1010C>G

1 paper

NM_020526.5

p.V344L

c.1030G>C

1 paper

NM_020526.5

p.V344L

c.1030G>T

1 paper

NM_020526.5

p.P351S

c.1051C>T