Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.S799Y

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
2 papers
NM_002693.3
p.S799Y
c.2396C>A
Surrounding Variants
2 papers
NM_002693.3
p.M797del1
c.2389_2390delCAT
8 papers
NM_002693.3
p.M797I
c.2391G>T
8 papers
NM_002693.3
p.M797I
c.2391G>C
8 papers
NM_002693.3
p.M797I
c.2391G>A
1 paper
NM_002693.3
p.W801C
c.2403G>T
1 paper
NM_002693.3
p.W801C
c.2403G>C
1 paper
NM_002693.3
p.A804P
c.2410G>C
6 papers
NM_002693.3
p.A804T
c.2410G>A
51 papers
NM_002693.3
p.R807C
c.2419C>T
24 papers
NM_002693.3
p.R807P
c.2420G>C
14 papers
NM_002693.3
p.R807H
c.2420G>A
3 papers
NM_002693.3
p.R790H
c.2369G>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."