Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.P635_T636del2

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.P635_T636del2
c.1903_1907del6
Surrounding Variants
1 paper
NM_002693.3
p.G637D
c.1910G>A
1 paper
NM_002693.3
p.P635_T636delFs
c.1904_1907del4
1 paper
NM_002693.3
p.T638_T639insA
c.1912_1916ins3
1 paper
NM_002693.3
p.P635fs
c.1903_1904fs
2 papers
NM_002693.3
p.P635L
c.1904C>T
1 paper
NM_002693.3
p.T638fs
c.1912_1913fs
1 paper
NM_002693.3
p.K633R
c.1898A>G
1 paper
NM_002693.3
p.E641K
c.1921G>A
1 paper
NM_002693.3
p.E641V
c.1922A>T
1 paper
NM_002693.3
p.D629A
c.1886A>C
5 papers
NM_002693.3
p.R628Q
c.1883G>A
3 papers
NM_002693.3
p.R628W
c.1882C>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."