Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.S1086L

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.S1086L
c.3257C>T
Surrounding Variants
1 paper
NM_002693.3
p.E1084G
c.3251A>G
2 papers
NM_002693.3
p.L1083L
c.3249G>A
1 paper
NM_002693.3
p.A1082T
c.3244G>A
3 papers
NM_002693.3
p.R1081R
c.3243A>T
317 papers
NM_002693.3
p.R1081R
c.3243A>G
1 paper
NM_002693.3
p.S1080_R1081ins0
c.3240_3242dupCCG
2 papers
NM_002693.3
p.R1081P
c.3242G>C
7 papers
NM_002693.3
p.R1081Q
c.3242G>A
2 papers
NM_002693.3
p.S1080I
c.3239G>T
5 papers
NM_002693.3
p.S1080T
c.3239G>C
5 papers
NM_002693.3
p.I1079L
c.3235A>C
1 paper
NM_002693.3
p.C1077Y
c.3230G>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."