Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.S1104C

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
33 papers
NM_002693.3
p.S1104C
c.3311C>G
Surrounding Variants
4 papers
NM_002693.3
p.S1104F
c.3311C>T
4 papers
NM_002693.3
p.A1105P
c.3313G>C
31 papers
NM_002693.3
p.A1105T
c.3313G>A
1 paper
NM_002693.3
p.S1103R
c.3309C>G
1 paper
NM_002693.3
p.S1103R
c.3309C>A
2 papers
NM_002693.3
p.A1105V
c.3314C>T
2 papers
NM_002693.3
p.S1103R
c.3307A>C
1 paper
NM_002693.3
p.V1106L
c.3316G>C
14 papers
NM_002693.3
p.V1106I
c.3316G>A
7 papers
NM_002693.3
p.V1106A
c.3317T>C
5 papers
NM_002693.3
p.Q1102P
c.3305A>C
1 paper
NM_002693.3
p.Q1102ins1
c.3305_3306insGCC
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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."