Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.K601E

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
3 papers
NM_002693.3
p.K601E
c.1801A>G
Surrounding Variants
1 paper
NM_002693.3
p.T599I
c.1796C>T
12 papers
NM_002693.3
p.M603L
c.1807A>T
12 papers
NM_002693.3
p.M603L
c.1807A>C
3 papers
NM_002693.3
p.T599P
c.1795A>C
6 papers
NM_002693.3
p.M603T
c.1808T>C
1 paper
NM_002693.3
p.R597R
c.1791G>T
9 papers
NM_002693.3
p.R597Q
c.1790G>A
25 papers
NM_002693.3
p.R597W
c.1789C>T
8 papers
NM_002693.3
p.L605R
c.1814T>G
2 papers
NM_002693.3
p.T606fs
c.1816_1817fs
1 paper
NM_002693.3
p.T606_W607delFs
c.1816_1820del5
4 papers
NM_002693.3
p.L592F
c.1774C>T
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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."