Varaico: Literature-Extracted Genetic Variants

RNF170

46 papers

RefSeq Summary

This gene encodes a RING domain-containing protein that resides in the endoplasmic reticulum (ER) membrane. This protein functions as an E3 ubiquitin ligase and mediates ubiquitination and processing ...

Pfam Domains

zf-RING_UBOXaa 87–127UCSCRING-type zinc-finger

DUF1232aa 202–239UCSCProtein of unknown function (DUF1232)

Gene Aliases

HGNC Name

ring finger protein 170

HGNC Previous Symbol

SNAX1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_030954.4

p.I214V

c.640A>G

Surrounding Variants

1 paper

NM_030954.4

p.A223D

c.668C>A

2 papers

NM_030954.4

p.R199H

c.596G>A

15 papers

NM_030954.4

p.R199C

c.595C>T

1 paper

NM_030954.4

p.D232A

c.695A>C

1 paper

NM_030954.4

p.F195V

c.583T>G

2 papers

NM_030954.4

p.F189C

c.566T>G

2 papers

NM_030954.4

p.M188V

c.562A>G

1 paper

NM_030954.4

p.R249Q

c.746G>A

1 paper

NM_030954.4

p.D176A

c.527A>C

1 paper

NM_030954.4

p.D176insFs

c.526dupG

1 paper

NM_030954.4

p.D176fs

c.526_527fs

1 paper

NM_030954.4

p.I174delFs

c.520delT