Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R866W

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.R866W
c.2596C>T
Surrounding Variants
21 papers
NM_002693.3
p.N864S
c.2591A>G
1 paper
NM_002693.3
p.S863I
c.2588G>T
23 papers
NM_002693.3
p.A862T
c.2584G>A
2 papers
NM_002693.3
p.L860R
c.2579T>G
3 papers
NM_002693.3
p.T858I
c.2573C>T
6 papers
NM_002693.3
p.E856K
c.2566G>A
9 papers
NM_002693.3
p.V855A
c.2564T>C
3 papers
NM_002693.3
p.V855L
c.2563G>T
2 papers
NM_002693.3
p.V855L
c.2563G>C
1 paper
NM_002693.3
p.A854V
c.2561C>T
26 papers
NM_002693.3
p.R853Q
c.2558G>A
45 papers
NM_002693.3
p.R853W
c.2557C>T
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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."