Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R574Q

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
6 papers
NM_002693.3
p.R574Q
c.1721G>A
Surrounding Variants
30 papers
NM_002693.3
p.R574W
c.1720C>T
1 paper
NM_002693.3
p.K575E
c.1723A>G
1 paper
NM_002693.3
p.W572_Y573ins4
c.1714_1718ins12
1 paper
NM_002693.3
p.L576L
c.1728C>A
1 paper
NM_002693.3
p.G571V
c.1712G>T
1 paper
NM_002693.3
p.C577Y
c.1730G>A
12 papers
NM_002693.3
p.R579W
c.1735C>T
1 paper
NM_002693.3
p.D581N
c.1741G>A
1 paper
NM_002693.3
p.G571Splc
c.1713-21T>A
2 papers
NM_002693.3
p.A584T
c.1750G>A
7 papers
NM_002693.3
p.W585*
c.1754G>A
7 papers
NM_002693.3
p.W585*
c.1755G>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."