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.C107W

c.321T>G

Surrounding Variants

1 paper

NM_030954.4

p.G103E

c.308G>A

6 papers

NM_030954.4

p.C102R

c.304T>C

1 paper

NM_030954.4

p.Q71_D72Splc

c.213+1G>A

1 paper

NM_030954.4

p.E70Q

c.208G>C

2 papers

NM_030954.4

p.R64*

c.190C>T

2 papers

NM_030954.4

p.R64R

c.190C>A

1 paper

NM_030954.4

p.G108R

c.322G>C

3 papers

NM_030954.4

p.A109fs

c.325_326fs

5 papers

NM_030954.4

p.Y114*

c.342C>G

5 papers

NM_030954.4

p.Y114*

c.342C>A

1 paper

NM_030954.4

p.R116*

c.346C>T

1 paper

NM_030954.4

p.A123fs

c.367_368fs