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.G6D

c.17G>A

Surrounding Variants

1 paper

NM_020526.5

p.P10H

c.29C>A

1 paper

NM_020526.5

p.A11V

c.32C>T

1 paper

NM_020526.5

p.L34F

c.102G>C

1 paper

NM_020526.5

p.L34F

c.102G>T

1 paper

NM_020526.5

p.T37M

c.110C>T

6 papers

NM_020526.5

p.G45S

c.133G>A

1 paper

NM_020526.5

p.T48M

c.143C>T

1 paper

NM_020526.5

p.G53V

c.158G>T