Varaico: Literature-Extracted Genetic Variants

Gene:RNF112
Variant:p.V488I

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
1 paper
NM_007148.5
p.V488I
c.1462G>A
Surrounding Variants
1 paper
NM_007148.5
p.V477I
c.1429G>A
1 paper
NM_007148.5
p.L505V
c.1513C>G
1 paper
NM_007148.5
p.E527G
c.1580A>G
1 paper
NM_007148.5
p.M541L
c.1621A>C
1 paper
NM_007148.5
p.M541L
c.1621A>T
2 papers
NM_007148.5
p.D457G
c.1370A>G
1 paper
NM_007148.5
p.A587A
c.1761C>T
1 paper
NM_007148.5
p.E617K
c.1849G>A
1 paper
NM_007148.5
p.D449H
c.1345G>C
2 papers
NM_007148.5
p.R624*
c.1870C>T
1 paper
NM_007148.5
p.G439W
c.1315G>T
1 paper
NM_007148.5
p.M438I
c.1314G>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."