Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2C
Variant:p.K143I

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
9 papers
NM_032193.4
p.K143I
c.428A>T
Surrounding Variants
1 paper
NM_032193.4
p.K143E
c.427A>G
2 papers
NM_032193.4
p.R145C
c.433C>T
4 papers
NM_032193.4
p.R145L
c.434G>T
1 paper
NM_032193.4
p.R145P
c.434G>C
2 papers
NM_032193.4
p.R145H
c.434G>A
1 paper
NM_032193.4
p.G146E
c.437G>A
1 paper
NM_032193.4
p.P138L
c.413C>T
2 papers
NM_032193.4
p.W150*
c.449G>A
2 papers
NM_032193.4
p.W150*
c.450G>A
5 papers
NM_032193.4
p.P151S
c.451C>T
1 paper
NM_032193.4
p.L134P
c.401T>C
2 papers
NM_032193.4
p.L134Q
c.401T>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."