Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R334T

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.R334T
c.1001G>C
Surrounding Variants
1 paper
NM_002693.3
p.R334W
c.1000A>T
1 paper
NM_002693.3
p.Q333*
c.997C>T
1 paper
NM_002693.3
p.Q333_R334insG
c.997_1001ins3
1 paper
NM_002693.3
p.S332F
c.995C>T
1 paper
NM_002693.3
p.K331N
c.993G>T
1 paper
NM_002693.3
p.K331N
c.993G>C
1 paper
NM_002693.3
p.R338T
c.1013G>C
1 paper
NM_002693.3
p.R338K
c.1013G>A
1 paper
NM_002693.3
p.Q330*
c.988C>T
1 paper
NM_002693.3
p.Q328H
c.984A>T
1 paper
NM_002693.3
p.Q328H
c.984A>C
1 paper
NM_002693.3
p.K321_K327del7
c.961_980del21
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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."