Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.Q323*

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
1 paper
NM_002693.3
p.Q323*
c.967C>T
Surrounding Variants
7 papers
NM_002693.3
p.P324S
c.970C>T
8 papers
NM_002693.3
p.K321M
c.962A>T
1 paper
NM_002693.3
p.P325L
c.974C>T
1 paper
NM_002693.3
p.K319insFs
c.956dupA
1 paper
NM_002693.3
p.W312_K319del0
c.934_957del24
5 papers
NM_002693.3
p.T326insFs
c.976_977insC
1 paper
NM_002693.3
p.T326fs
c.976_977fs
2 papers
NM_002693.3
p.T326fs
c.976_977fs
5 papers
NM_002693.3
p.K319E
c.955A>G
1 paper
NM_002693.3
p.K327Q
c.979A>C
1 paper
NM_002693.3
p.G318S
c.952G>A
1 paper
NM_002693.3
p.K321_K327del7
c.961_980del21
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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."