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

1 paper

NM_030954.4

p.D148G

c.443A>G

Surrounding Variants

1 paper

NM_030954.4

p.Q147*

c.439C>T

1 paper

NM_030954.4

p.Q145*

c.433C>T

1 paper

NM_030954.4

p.L136del1

c.406_407delGAG

1 paper

NM_030954.4

p.R161R

c.481C>A

5 papers

NM_030954.4

p.T132_V133Splc

c.396+3A>G

1 paper

NM_030954.4

p.T132T

c.396G>A

1 paper

NM_030954.4

p.I128F

c.382A>T

1 paper

NM_030954.4

p.S125N

c.374G>A

1 paper

NM_030954.4

p.A123delFs

c.367delC

1 paper

NM_030954.4

p.A123fs

c.367_368fs

1 paper

NM_030954.4

p.R116*

c.346C>T

5 papers

NM_030954.4

p.Y114*

c.342C>G