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.Q887H

c.2661G>C

Surrounding Variants

1 paper

NM_020526.5

p.Q887H

c.2661G>T

7 papers

NM_020526.5

p.R884H

c.2651G>A

2 papers

NM_020526.5

p.R884C

c.2650C>T

1 paper

NM_020526.5

p.A880V

c.2639C>T

1 paper

NM_020526.5

p.A866T

c.2596G>A

1 paper

NM_020526.5

p.P864P

c.2592C>A

1 paper

NM_020526.5

p.R910Splc

c.2729+1G>A

1 paper

NM_020526.5

p.R910Splc

c.2729+1G>T

1 paper

NM_020526.5

p.Y855H

c.2563T>C

1 paper

NM_020526.5

p.E852E

c.2556G>A

1 paper

NM_020526.5

p.D846_V847Splc

c.2539-1G>A

1 paper

NM_020526.5

p.R845Q

c.2534G>A