Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.G782D

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.G782D
c.2345G>A
Surrounding Variants
1 paper
NM_002693.3
p.G782R
c.2344G>C
1 paper
NM_002693.3
p.A781T
c.2341G>A
1 paper
NM_002693.3
p.G784A
c.2351G>C
1 paper
NM_002693.3
p.G785D
c.2354G>A
1 paper
NM_002693.3
p.G785insFs
c.2354_2355insG
1 paper
NM_002693.3
p.G777V
c.2330G>T
1 paper
NM_002693.3
p.L771_D776del6
c.2311_2327del18
3 papers
NM_002693.3
p.E775K
c.2323G>A
3 papers
NM_002693.3
p.R790H
c.2369G>A
1 paper
NM_002693.3
p.L771P
c.2312T>C
1 paper
NM_002693.3
p.K768E
c.2302A>G
16 papers
NM_002693.3
p.A767D
c.2300C>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."