Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R943C

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
17 papers
NM_002693.3
p.R943C
c.2827C>T
Surrounding Variants
52 papers
NM_002693.3
p.R943H
c.2828G>A
1 paper
NM_002693.3
p.I941_S942del1
c.2822_2824delTGA
1 paper
NM_002693.3
p.E944Q
c.2830G>C
2 papers
NM_002693.3
p.E944K
c.2830G>A
1 paper
NM_002693.3
p.E944G
c.2831A>G
1 paper
NM_002693.3
p.E944D
c.2832G>T
1 paper
NM_002693.3
p.E944D
c.2832G>C
1 paper
NM_002693.3
p.I941V
c.2821A>G
5 papers
NM_002693.3
p.H945L
c.2834A>T
1 paper
NM_002693.3
p.H945Q
c.2835T>G
1 paper
NM_002693.3
p.G940C
c.2818G>T
1 paper
NM_002693.3
p.A946V
c.2837C>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."