Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.W1099C

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.W1099C
c.3297G>C
Surrounding Variants
1 paper
NM_002693.3
p.W1099C
c.3297G>T
1 paper
NM_002693.3
p.N1098K
c.3294T>G
1 paper
NM_002693.3
p.N1098K
c.3294T>A
1 paper
NM_002693.3
p.V1101I
c.3301G>A
1 paper
NM_002693.3
p.N1098I
c.3293A>T
1 paper
NM_002693.3
p.N1098S
c.3293A>G
1 paper
NM_002693.3
p.N1098T
c.3293A>C
5 papers
NM_002693.3
p.Q1102P
c.3305A>C
1 paper
NM_002693.3
p.Q1102ins1
c.3305_3306insGCC
5 papers
NM_002693.3
p.R1096L
c.3287G>T
28 papers
NM_002693.3
p.R1096H
c.3287G>A
2 papers
NM_002693.3
p.S1103R
c.3307A>C
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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."