Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.Q308H

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
17 papers
NM_002693.3
p.Q308H
c.924G>C
Surrounding Variants
16 papers
NM_002693.3
p.Q308H
c.924G>T
11 papers
NM_002693.3
p.R309C
c.925C>T
1 paper
NM_002693.3
p.Q308R
c.923A>G
22 papers
NM_002693.3
p.R309L
c.926G>T
1 paper
NM_002693.3
p.R309P
c.926G>C
28 papers
NM_002693.3
p.R309H
c.926G>A
1 paper
NM_002693.3
p.S310N
c.929G>A
1 paper
NM_002693.3
p.S306S
c.918C>T
1 paper
NM_002693.3
p.L311P
c.932T>C
31 papers
NM_002693.3
p.S305R
c.915C>G
31 papers
NM_002693.3
p.S305R
c.915C>A
1 paper
NM_002693.3
p.S305delins
c.914_915delinsTT
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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."