Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH1
Variant:p.H260Y

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.H260Y
c.778C>T
Surrounding Variants
1 paper
NM_002936.6
p.S265S
c.795G>A
2 papers
NM_002936.6
p.D274A
c.821A>C
1 paper
NM_002936.6
p.T251I
c.752C>T
1 paper
NM_002936.6
p.A234A
c.702A>G
1 paper
NM_002936.6
p.G217Splc
c.650-27C>T
1 paper
NM_002936.6
p.G217Splc
c.649+13A>G
1 paper
NM_002936.6
p.G217Splc
c.649+6C>T
54 papers
NM_002936.6
p.D210N
c.628G>A
1 paper
NM_002936.6
p.H188_A189Splc
c.564+80T>A
1 paper
NM_002936.6
p.E186Q
c.556G>C
10 papers
NM_002936.6
p.A185V
c.554C>T
1 paper
NM_002936.6
p.P177L
c.530C>T
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