Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2C
Variant:p.R66H

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.R66H
c.197G>A
Surrounding Variants
5 papers
NM_032193.4
p.G65D
c.194G>A
2 papers
NM_032193.4
p.L68V
c.202C>G
1 paper
NM_032193.4
p.R64W
c.190C>T
1 paper
NM_032193.4
p.G58_F63delFs
c.174_189del16
43 papers
NM_032193.4
p.R69W
c.205C>T
1 paper
NM_032193.4
p.R69G
c.205C>G
1 paper
NM_032193.4
p.E60Q
c.178G>C
1 paper
NM_032193.4
p.V73fs
c.217_218fs
1 paper
NM_032193.4
p.E72_V73delins
c.215_218delinsTGGC
1 paper
NM_032193.4
p.L59fs
c.175_176fs
1 paper
NM_032193.4
p.V73delFs
c.218_219delCA
1 paper
NM_032193.4
p.G58Splc
c.173-1G>C
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