Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2C
Variant:p.R13H

RNASEH2C

125 papers

RefSeq Summary

This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dys...

Pfam Domains

RNase_H2_suCaa 28–157UCSCRibonuclease H2 non-catalytic subunit (Ylr154p-like)

Gene Aliases

HGNC Name

ribonuclease H2 subunit C

HGNC Alias Symbols

AYP1; AGS3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032193.4
p.R13H
c.38G>A
Surrounding Variants
1 paper
NM_032193.4
p.A8insFs
c.23dupC
1 paper
NM_032193.4
p.T20insFs
c.58dupA
1 paper
NM_032193.4
p.G4S
c.10G>A
1 paper
NM_032193.4
p.S3S
c.9C>T
1 paper
NM_032193.4
p.E2Q
c.4G>C
1 paper
NM_032193.4
p.P33R
c.98C>G
1 paper
NM_032193.4
p.C34Y
c.101G>A
1 paper
NM_032193.4
p.C34*
c.102C>A
1 paper
NM_032193.4
p.A37S
c.109G>T
6 papers
NM_032193.4
p.D39Y
c.115G>T
1 paper
NM_032193.4
p.P43P
c.129G>A
1 paper
NM_032193.4
p.G45W
c.133G>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."