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

15 papers

NM_030954.4

p.R199C

c.595C>T

Surrounding Variants

2 papers

NM_030954.4

p.R199H

c.596G>A

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

3 papers

NM_030954.4

p.I214V

c.640A>G

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.A223D

c.668C>A

1 paper

NM_030954.4

p.I174delFs

c.520delT

2 papers

NM_030954.4

p.R173delFs

c.518_519delTC

4 papers

NM_030954.4

p.R173fs

c.517_518fs