Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.L592F

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
4 papers
NM_002693.3
p.L592F
c.1774C>T
Surrounding Variants
2 papers
NM_002693.3
p.L591F
c.1771C>T
1 paper
NM_002693.3
p.S590T
c.1769G>C
15 papers
NM_002693.3
p.P589L
c.1766C>T
2 papers
NM_002693.3
p.P589T
c.1765C>A
1 paper
NM_002693.3
p.G588delFs
c.1762_1763delCC
6 papers
NM_002693.3
p.G588D
c.1763G>A
1 paper
NM_002693.3
p.G588fs
c.1762_1763fs
175 papers
NM_002693.3
p.P587L
c.1760C>T
25 papers
NM_002693.3
p.R597W
c.1789C>T
9 papers
NM_002693.3
p.R597Q
c.1790G>A
1 paper
NM_002693.3
p.R597R
c.1791G>T
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."