Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH1
Variant:p.G105_D106delFs

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
Selected Variant
1 paper
NM_002936.6
p.G105_D106delFs
c.313_317del5
Surrounding Variants
1 paper
NM_002936.6
p.E109insFs
c.325dupG
1 paper
NM_002936.6
p.R100H
c.299G>A
1 paper
NM_002936.6
p.Y114F
c.341A>T
1 paper
NM_002936.6
p.Y114C
c.341A>G
2 papers
NM_002936.6
p.M118V
c.352A>G
1 paper
NM_002936.6
p.G88A
c.263G>C
3 papers
NM_002936.6
p.Q86del1
c.256_257delTTG
1 paper
NM_002936.6
p.D131G
c.392A>G
1 paper
NM_002936.6
p.M136V
c.406A>G
1 paper
NM_002936.6
p.V140D
c.419T>A
1 paper
NM_002936.6
p.V141L
c.421G>C
16 papers
NM_002936.6
p.V142I
c.424G>A
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