Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.S933R

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
3 papers
NM_002693.3
p.S933R
c.2797A>C
Surrounding Variants
1 paper
NM_002693.3
p.H932Q
c.2796C>G
1 paper
NM_002693.3
p.H932Q
c.2796C>A
3 papers
NM_002693.3
p.S933R
c.2799T>G
3 papers
NM_002693.3
p.S933R
c.2799T>A
34 papers
NM_002693.3
p.H932Y
c.2794C>T
1 paper
NM_002693.3
p.L931R
c.2792T>G
1 paper
NM_002693.3
p.T935P
c.2803A>C
1 paper
NM_002693.3
p.D930fs
c.2788_2789fs
1 paper
NM_002693.3
p.D930Y
c.2788G>T
13 papers
NM_002693.3
p.D930N
c.2788G>A
2 papers
NM_002693.3
p.R927fs
c.2779_2780fs
1 paper
NM_002693.3
p.V939M
c.2815G>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."