Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2C

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
1–12 of 75 variants
43 papers
NM_032193.4
p.R69W
c.205C>T
9 papers
NM_032193.4
p.K143I
c.428A>T
6 papers
NM_032193.4
p.D39Y
c.115G>T
6 papers
NM_032193.4
p.P76L
c.227C>T
5 papers
NM_032193.4
p.G65D
c.194G>A
5 papers
NM_032193.4
p.P151S
c.451C>T
4 papers
NM_032193.4
p.D115fs
c.343_344fs
4 papers
NM_032193.4
p.R145L
c.434G>T
2 papers
NM_032193.4
p.R13H
c.38G>A
2 papers
NM_032193.4
p.R66H
c.197G>A
2 papers
NM_032193.4
p.L68V
c.202C>G
2 papers
NM_032193.4
p.D105A
c.314A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."