Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R628W

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
3 papers
NM_002693.3
p.R628W
c.1882C>T
Surrounding Variants
5 papers
NM_002693.3
p.R628Q
c.1883G>A
1 paper
NM_002693.3
p.R627R
c.1881G>A
3 papers
NM_002693.3
p.R627P
c.1880G>C
60 papers
NM_002693.3
p.R627Q
c.1880G>A
41 papers
NM_002693.3
p.R627W
c.1879C>T
1 paper
NM_002693.3
p.D629A
c.1886A>C
1 paper
NM_002693.3
p.P625L
c.1874C>T
3 papers
NM_002693.3
p.P625R
c.1874C>G
9 papers
NM_002693.3
p.L623W
c.1868T>G
1 paper
NM_002693.3
p.K633R
c.1898A>G
2 papers
NM_002693.3
p.G621D
c.1862G>A
1 paper
NM_002693.3
p.W607_G619del13
c.1819_1856del39
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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."