Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.T920I

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.T920I
c.2759C>T
Surrounding Variants
8 papers
NM_002693.3
p.M919T
c.2756T>C
12 papers
NM_002693.3
p.W918R
c.2752T>C
11 papers
NM_002693.3
p.W918R
c.2752T>A
31 papers
NM_002693.3
p.G923D
c.2768G>A
1 paper
NM_002693.3
p.K925fs
c.2773_2774fs
1 paper
NM_002693.3
p.T914A
c.2740A>G
70 papers
NM_002693.3
p.T914P
c.2740A>C
2 papers
NM_002693.3
p.R927fs
c.2779_2780fs
1 paper
NM_002693.3
p.G912Splc
c.2735-3C>A
1 paper
NM_002693.3
p.D930Y
c.2788G>T
13 papers
NM_002693.3
p.D930N
c.2788G>A
1 paper
NM_002693.3
p.D930fs
c.2788_2789fs
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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."