Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.S1230F

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
8 papers
NM_002693.3
p.S1230F
c.3689C>T
Surrounding Variants
1 paper
NM_002693.3
p.R1234*
c.3700C>T
2 papers
NM_002693.3
p.L1226H
c.3677T>A
1 paper
NM_002693.3
p.R1234P
c.3701G>C
2 papers
NM_002693.3
p.R1234Q
c.3701G>A
1 paper
NM_002693.3
p.E1225insFs
c.3673_3674insG
1 paper
NM_002693.3
p.E1225fs
c.3673_3674fs
1 paper
NM_002693.3
p.I1224T
c.3671T>C
75 papers
NM_002693.3
p.Q1236H
c.3708G>T
71 papers
NM_002693.3
p.Q1236H
c.3708G>C
1 paper
NM_002693.3
p.P1237L
c.3710C>T
1 paper
NM_002693.3
p.Q1222Q
c.3666G>A
11 papers
NM_002693.3
p.*1240Q
c.3718T>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."