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.G647R

c.1939G>C

Surrounding Variants

1 paper

NM_020526.5

p.G647R

c.1939G>A

1 paper

NM_020526.5

p.D661H

c.1981G>C

1 paper

NM_020526.5

p.K670R

c.2009A>G

1 paper

NM_020526.5

p.G672S

c.2014G>A

1 paper

NM_020526.5

p.E675K

c.2023G>A

1 paper

NM_020526.5

p.R679Q

c.2036G>A

1 paper

NM_020526.5

p.L682L

c.2046G>T

1 paper

NM_020526.5

p.A685G

c.2054C>G

1 paper

NM_020526.5

p.A685V

c.2054C>T

1 paper

NM_020526.5

p.P694P

c.2082C>A

1 paper

NM_020526.5

p.E700V

c.2099A>T

1 paper

NM_020526.5

p.G706Splc

c.2116+10G>A