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.C73S

c.218G>C

Surrounding Variants

2 papers

NM_020526.5

p.C73S

c.217T>A

1 paper

NM_020526.5

p.V75F

c.223G>T

1 paper

NM_020526.5

p.M76L

c.226A>C

1 paper

NM_020526.5

p.M76L

c.226A>T

1 paper

NM_020526.5

p.P78H

c.233C>A

1 paper

NM_020526.5

p.P78L

c.233C>T

1 paper

NM_020526.5

p.D61E

c.183C>A

1 paper

NM_020526.5

p.D61E

c.183C>G

1 paper

NM_020526.5

p.D61N

c.181G>A

1 paper

NM_020526.5

p.N58S

c.173A>G

1 paper

NM_020526.5

p.S56Y

c.167C>A

1 paper

NM_020526.5

p.A94T

c.280G>A