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.D937fs

c.2809_2810fs

Surrounding Variants

1 paper

NM_020526.5

p.T934P

c.2800A>C

1 paper

NM_020526.5

p.T934A

c.2800A>G

1 paper

NM_020526.5

p.D940H

c.2818G>C

1 paper

NM_020526.5

p.D940G

c.2819A>G

1 paper

NM_020526.5

p.G932G

c.2796C>T

1 paper

NM_020526.5

p.S927S

c.2781C>T

1 paper

NM_020526.5

p.R946Q

c.2837G>A

1 paper

NM_020526.5

p.R924Q

c.2771G>A

1 paper

NM_020526.5

p.A953V

c.2858C>T

2 papers

NM_020526.5

p.V917I

c.2749G>A

1 paper

NM_020526.5

p.S957F

c.2870C>T

1 paper

NM_020526.5

p.V962G

c.2885T>G