Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R964C

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
93 papers
NM_002693.3
p.R964C
c.2890C>T
Surrounding Variants
12 papers
NM_002693.3
p.L965*
c.2894T>G
12 papers
NM_002693.3
p.L965*
c.2894T>A
9 papers
NM_002693.3
p.A962T
c.2884G>A
21 papers
NM_002693.3
p.L966R
c.2897T>G
9 papers
NM_002693.3
p.F961S
c.2882T>C
2 papers
NM_002693.3
p.Q968E
c.2902C>G
1 paper
NM_002693.3
p.G958V
c.2873G>T
5 papers
NM_002693.3
p.A957V
c.2870C>T
35 papers
NM_002693.3
p.A957S
c.2869G>T
31 papers
NM_002693.3
p.A957P
c.2869G>C
1 paper
NM_002693.3
p.R972W
c.2914C>T
1 paper
NM_002693.3
p.R972Q
c.2915G>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."