Varaico: Literature-Extracted Genetic Variants

Gene:RNF112

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
1–12 of 73 variants
2 papers
NM_007148.5
p.E177K
c.529G>A
2 papers
NM_007148.5
p.L193S
c.578T>C
2 papers
NM_007148.5
p.D457G
c.1370A>G
2 papers
NM_007148.5
p.R624*
c.1870C>T
1 paper
NM_007148.5
p.P2T
c.4C>A
1 paper
NM_007148.5
p.A5T
c.13G>A
1 paper
NM_007148.5
p.A5D
c.14C>A
1 paper
NM_007148.5
p.C12W
c.36T>G
1 paper
NM_007148.5
p.R14R
c.40C>A
1 paper
NM_007148.5
p.R20K
c.59G>A
1 paper
NM_007148.5
p.K21I
c.62A>T
1 paper
NM_007148.5
p.S33T
c.97T>A
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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."