Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH1

RNASEH1

169 papers

RefSeq Summary

This gene encodes an endonuclease that specifically degrades the RNA of RNA-DNA hybrids and plays a key role in DNA replication and repair. Alternate in-frame start codon initiation results in the pro...

Pfam Domains

Cauli_VIaa 27–71UCSCRibonuclease H1 N-terminal domain
RNase_Haa 138–282UCSCRNase H

Gene Aliases

HGNC Name

ribonuclease H1

HGNC Alias Name

RNase H1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
54 papers
NM_002936.6
p.D210N
c.628G>A
16 papers
NM_002936.6
p.V142I
c.424G>A
11 papers
NM_002936.6
p.R157*
c.469C>T
10 papers
NM_002936.6
p.A185V
c.554C>T
8 papers
NM_002936.6
p.D145N
c.433G>A
5 papers
NM_002936.6
p.C148R
c.442T>C
3 papers
NM_002936.6
p.M1R
c.2T>G
3 papers
NM_002936.6
p.Q86del1
c.256_257delTTG
3 papers
NM_002936.6
p.Y163H
c.487T>C
2 papers
NM_002936.6
p.G21S
c.61G>A
2 papers
NM_002936.6
p.M118V
c.352A>G
2 papers
NM_002936.6
p.D274A
c.821A>C
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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."