Varaico: Literature-Extracted Genetic Variants

EPHA7

361 papers

RefSeq Summary

This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nerv...

Pfam Domains

Ephrin_lbdaa 1–129UCSCEphrin receptor ligand binding domain

Ephrin_lbdaa 33–205UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 206–265UCSCEphrin cysteine rich domain

Ephrin_rec_likeaa 268–312UCSCTyrosine-protein kinase ephrin type A/B receptor-like

fn3aa 333–433UCSCFibronectin type III domain

fn3aa 441–533UCSCFibronectin type III domain

Gene Aliases

HGNC Name

EPH receptor A7

HGNC Alias Symbol

Hek11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004440.4

p.R309*

c.925A>T

Surrounding Variants

1 paper

NM_004440.4

p.S308F

c.923C>T

1 paper

NM_004440.4

p.G306C

c.916G>T

1 paper

NM_004440.4

p.K304N

c.912A>T

1 paper

NM_004440.4

p.D314H

c.940G>C

1 paper

NM_004440.4

p.D303Y

c.907G>T

1 paper

NM_004440.4

p.G315R

c.943G>C

1 paper

NM_004440.4

p.G315R

c.943G>A

1 paper

NM_004440.4

p.D303N

c.907G>A

1 paper

NM_004440.4

p.G315E

c.944G>A

1 paper

NM_004440.4

p.S302F

c.905C>T

1 paper

NM_004440.4

p.Y317*

c.951C>G

1 paper

NM_004440.4

p.Y317*

c.951C>A