Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.L228L

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.L228L
c.682C>T
Surrounding Variants
1 paper
NM_002693.3
p.R227fs
c.679_680fs
12 papers
NM_002693.3
p.R227P
c.680G>C
7 papers
NM_002693.3
p.R227Q
c.680G>A
33 papers
NM_002693.3
p.R227W
c.679C>T
1 paper
NM_002693.3
p.Q226delFs
c.677_678delCT
1 paper
NM_002693.3
p.V229A
c.686T>C
8 papers
NM_002693.3
p.Q226H
c.678G>T
8 papers
NM_002693.3
p.Q226H
c.678G>C
1 paper
NM_002693.3
p.Q226R
c.677A>G
1 paper
NM_002693.3
p.S225_Q226insFs
c.675_676insA
1 paper
NM_002693.3
p.R227_E230delFs
c.679_688del10
1 paper
NM_002693.3
p.S225N
c.674G>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."