Varaico: Literature-Extracted Genetic Variants

Gene:RNF112
Variant:p.L193S

RNF112

163 papers

RefSeq Summary

This gene encodes a member of the RING finger protein family of transcription factors. The protein is primarily expressed in brain. The gene is located within the Smith-Magenis syndrome region on chro...

Pfam Domains

zf-C3HC4aa 57–97UCSCZinc finger, C3HC4 type (RING finger)
GBPaa 148–333UCSCGuanylate-binding protein, N-terminal domain

Gene Aliases

HGNC Name

ring finger protein 112

HGNC Previous Symbol

ZNF179

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_007148.5
p.L193S
c.578T>C
Surrounding Variants
1 paper
NM_007148.5
p.L185P
c.554T>C
1 paper
NM_007148.5
p.G181E
c.542G>A
1 paper
NM_007148.5
p.H179R
c.536A>G
1 paper
NM_007148.5
p.Q178R
c.533A>G
1 paper
NM_007148.5
p.E177A
c.530A>C
2 papers
NM_007148.5
p.E177K
c.529G>A
1 paper
NM_007148.5
p.A173T
c.517G>A
1 paper
NM_007148.5
p.D166E
c.498C>A
1 paper
NM_007148.5
p.D166E
c.498C>G
1 paper
NM_007148.5
p.L163V
c.487C>G
1 paper
NM_007148.5
p.E197A
c.590A>C
1 paper
NM_007148.5
p.G199R
c.595G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."