Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.S305R

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
31 papers
NM_002693.3
p.S305R
c.915C>A
Surrounding Variants
31 papers
NM_002693.3
p.S305R
c.915C>G
1 paper
NM_002693.3
p.S305delins
c.914_915delinsTT
1 paper
NM_002693.3
p.S305I
c.914G>T
2 papers
NM_002693.3
p.S305N
c.914G>A
1 paper
NM_002693.3
p.S305G
c.913A>G
32 papers
NM_002693.3
p.S305R
c.913A>C
1 paper
NM_002693.3
p.S306S
c.918C>T
85 papers
NM_002693.3
p.L304R
c.911T>G
1 paper
NM_002693.3
p.G303V
c.908G>T
22 papers
NM_002693.3
p.G303R
c.907G>C
22 papers
NM_002693.3
p.G303R
c.907G>A
1 paper
NM_002693.3
p.Q308R
c.923A>G
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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."