Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.S1095G

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
2 papers
NM_002693.3
p.S1095G
c.3283A>G
Surrounding Variants
16 papers
NM_002693.3
p.S1095R
c.3283A>C
16 papers
NM_002693.3
p.S1095R
c.3285C>G
16 papers
NM_002693.3
p.S1095R
c.3285C>A
71 papers
NM_002693.3
p.R1096C
c.3286C>T
2 papers
NM_002693.3
p.R1096G
c.3286C>G
5 papers
NM_002693.3
p.R1096L
c.3287G>T
28 papers
NM_002693.3
p.R1096H
c.3287G>A
1 paper
NM_002693.3
p.F1092L
c.3276T>G
1 paper
NM_002693.3
p.F1092L
c.3276T>A
1 paper
NM_002693.3
p.F1092L
c.3274T>C
1 paper
NM_002693.3
p.N1098I
c.3293A>T
1 paper
NM_002693.3
p.N1098S
c.3293A>G
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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."