Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.M297L

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
22 papers
NM_002693.3
p.M297L
c.889A>T
Surrounding Variants
2 papers
NM_002693.3
p.M299L
c.895A>T
1 paper
NM_002693.3
p.M299V
c.895A>G
3 papers
NM_002693.3
p.M299L
c.895A>C
2 papers
NM_002693.3
p.M299I
c.897G>T
2 papers
NM_002693.3
p.M299I
c.897G>C
2 papers
NM_002693.3
p.M299I
c.897G>A
1 paper
NM_002693.3
p.A300T
c.898G>A
1 paper
NM_002693.3
p.I301V
c.901A>G
1 paper
NM_002693.3
p.H298_I301del4
c.892_902del12
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.G303V
c.908G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."