Varaico: Literature-Extracted Genetic Variants

Gene:RNF112
Variant:p.V389I

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.V389I
c.1165G>A
Surrounding Variants
1 paper
NM_007148.5
p.R382C
c.1144C>T
1 paper
NM_007148.5
p.A396P
c.1186G>C
1 paper
NM_007148.5
p.T423M
c.1268C>T
1 paper
NM_007148.5
p.E430Q
c.1288G>C
1 paper
NM_007148.5
p.G375R
c.1123G>C
1 paper
NM_007148.5
p.R366Q
c.1097G>A
1 paper
NM_007148.5
p.M438I
c.1314G>A
1 paper
NM_007148.5
p.M438I
c.1314G>C
1 paper
NM_007148.5
p.M438I
c.1314G>T
1 paper
NM_007148.5
p.G439W
c.1315G>T
1 paper
NM_007148.5
p.A361G
c.1082C>G
1 paper
NM_007148.5
p.P360S
c.1078C>T
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