Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2A
Variant:p.L72L

RNASEH2A

189 papers

RefSeq Summary

The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleol...

Pfam Domains

RNase_HIIaa 31–241UCSCRibonuclease HII

Gene Aliases

HGNC Name

ribonuclease H2 subunit A

HGNC Alias Symbols

RNASEHI; RNHIA; RNHL; AGS4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006397.3
p.L72L
c.216G>A
Surrounding Variants
1 paper
NM_006397.3
p.L72_E73delins
c.215_218delinsTGGC
1 paper
NM_006397.3
p.L71insFs
c.212_213dupTA
1 paper
NM_006397.3
p.T70S
c.209C>G
3 papers
NM_006397.3
p.E75Q
c.223G>C
1 paper
NM_006397.3
p.T70S
c.208A>T
3 papers
NM_006397.3
p.T70fs
c.208_209fs
1 paper
NM_006397.3
p.K69insFs
c.207dupG
2 papers
NM_006397.3
p.E77delFs
c.229delG
2 papers
NM_006397.3
p.K69fs
c.205_206fs
1 paper
NM_006397.3
p.R76Q
c.227G>A
3 papers
NM_006397.3
p.K69insFs
c.206dupA
2 papers
NM_006397.3
p.E77fs
c.229_230fs
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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."