Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.S1067T

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.S1067T
c.3199T>A
Surrounding Variants
1 paper
NM_002693.3
p.T1066T
c.3198G>A
1 paper
NM_002693.3
p.S1063_A1065del3
c.3187_3194del9
1 paper
NM_002693.3
p.D1068E
c.3204C>G
1 paper
NM_002693.3
p.D1068E
c.3204C>A
1 paper
NM_002693.3
p.I1064T
c.3191T>C
1 paper
NM_002693.3
p.R1071C
c.3211C>T
2 papers
NM_002693.3
p.R1071H
c.3212G>A
1 paper
NM_002693.3
p.T1072S
c.3214A>T
1 paper
NM_002693.3
p.T1072S
c.3215C>G
2 papers
NM_002693.3
p.P1073A
c.3217C>G
25 papers
NM_002693.3
p.P1073L
c.3218C>T
3 papers
NM_002693.3
p.N1059S
c.3176A>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."