Varaico: Literature-Extracted Genetic Variants

Gene:POLG

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
1–12 of 1298 variants
426 papers
NM_002693.3
p.W748S
c.2243G>C
424 papers
NM_002693.3
p.A467T
c.1399G>A
317 papers
NM_002693.3
p.R1081R
c.3243A>G
218 papers
NM_002693.3
p.G848S
c.2542G>A
175 papers
NM_002693.3
p.P587L
c.1760C>T
171 papers
NM_002693.3
p.T251I
c.752C>T
162 papers
NM_002693.3
p.E1143G
c.3428A>G
152 papers
NM_002693.3
p.Y955C
c.2864A>G
93 papers
NM_002693.3
p.R964C
c.2890C>T
85 papers
NM_002693.3
p.L304R
c.911T>G
83 papers
NM_002693.3
p.G737R
c.2209G>C
83 papers
NM_002693.3
p.G737R
c.2209G>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."