Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.K768E

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.K768E
c.2302A>G
Surrounding Variants
16 papers
NM_002693.3
p.A767D
c.2300C>A
2 papers
NM_002693.3
p.F766_A767ins4
c.2296_2300ins12
2 papers
NM_002693.3
p.P765L
c.2294C>T
1 paper
NM_002693.3
p.P765S
c.2293C>T
6 papers
NM_002693.3
p.P765T
c.2293C>A
1 paper
NM_002693.3
p.L771P
c.2312T>C
1 paper
NM_002693.3
p.S764R
c.2292C>G
1 paper
NM_002693.3
p.S764R
c.2292C>A
1 paper
NM_002693.3
p.S764R
c.2290A>C
1 paper
NM_002693.3
p.G763E
c.2288G>A
12 papers
NM_002693.3
p.G763R
c.2287G>C
12 papers
NM_002693.3
p.G763R
c.2287G>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."