Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2C
Variant:p.F116fs

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.F116fs
c.346_347fs
Surrounding Variants
2 papers
NM_032193.4
p.F116_D117Splc
c.348+1G>A
4 papers
NM_032193.4
p.D115fs
c.343_344fs
1 paper
NM_032193.4
p.D115delFs
c.343_344delTC
1 paper
NM_032193.4
p.D115Y
c.343G>T
1 paper
NM_032193.4
p.F116_D117Splc
c.348+5G>A
1 paper
NM_032193.4
p.F116_D117Splc
c.348+6C>T
1 paper
NM_032193.4
p.P111L
c.332C>T
1 paper
NM_032193.4
p.Q107L
c.320A>T
2 papers
NM_032193.4
p.D105A
c.314A>C
1 paper
NM_032193.4
p.G103R
c.307G>C
1 paper
NM_032193.4
p.G103R
c.307G>A
1 paper
NM_032193.4
p.S102C
c.305C>G
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