Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R852C

POLG

1,910 papers

RefSeq Summary

Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA...

Pfam Domains

DNApol_Exoaa 121–414UCSCDNA mitochondrial polymerase exonuclease domain

Gene Aliases

HGNC Name

DNA polymerase gamma, catalytic subunit

HGNC Alias Symbols

POLG1; POLGA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
56 papers
NM_002693.3
p.R852C
c.2554C>T
Surrounding Variants
2 papers
NM_002693.3
p.R852H
c.2555G>A
45 papers
NM_002693.3
p.R853W
c.2557C>T
31 papers
NM_002693.3
p.T851A
c.2551A>G
26 papers
NM_002693.3
p.R853Q
c.2558G>A
1 paper
NM_002693.3
p.A854V
c.2561C>T
3 papers
NM_002693.3
p.V855L
c.2563G>T
2 papers
NM_002693.3
p.V855L
c.2563G>C
1 paper
NM_002693.3
p.G848_T849insFs
c.2544_2545insC
9 papers
NM_002693.3
p.V855A
c.2564T>C
2 papers
NM_002693.3
p.G848A
c.2543G>C
1 paper
NM_002693.3
p.G848D
c.2543G>A
218 papers
NM_002693.3
p.G848S
c.2542G>A
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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."