Varaico: Literature-Extracted Genetic Variants

Gene:RNF112
Variant:p.R79Q

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.R79Q
c.236G>A
Surrounding Variants
1 paper
NM_007148.5
p.R79W
c.235C>T
1 paper
NM_007148.5
p.H84Y
c.250C>T
1 paper
NM_007148.5
p.G73D
c.218G>A
1 paper
NM_007148.5
p.C72Y
c.215G>A
1 paper
NM_007148.5
p.C89S
c.265T>A
1 paper
NM_007148.5
p.C89S
c.266G>C
1 paper
NM_007148.5
p.E90K
c.268G>A
1 paper
NM_007148.5
p.R65C
c.193C>T
1 paper
NM_007148.5
p.E62A
c.185A>C
1 paper
NM_007148.5
p.E62Q
c.184G>C
1 paper
NM_007148.5
p.I59M
c.177C>G
1 paper
NM_007148.5
p.K102*
c.304A>T
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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."