Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2C
Variant:p.A51T

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
1 paper
NM_032193.4
p.A51T
c.151G>A
Surrounding Variants
1 paper
NM_032193.4
p.I52F
c.154A>T
1 paper
NM_032193.4
p.P56S
c.166C>T
1 paper
NM_032193.4
p.G45W
c.133G>T
1 paper
NM_032193.4
p.E57K
c.169G>A
1 paper
NM_032193.4
p.P43P
c.129G>A
6 papers
NM_032193.4
p.D39Y
c.115G>T
1 paper
NM_032193.4
p.A37S
c.109G>T
1 paper
NM_032193.4
p.C34*
c.102C>A
1 paper
NM_032193.4
p.C34Y
c.101G>A
1 paper
NM_032193.4
p.P33R
c.98C>G
1 paper
NM_032193.4
p.T20insFs
c.58dupA
2 papers
NM_032193.4
p.R13H
c.38G>A
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