Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.T1053fs

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.T1053fs
c.3157_3158fs
Surrounding Variants
1 paper
NM_002693.3
p.G1052del1
c.3154_3155delGCC
1 paper
NM_002693.3
p.G1052fs
c.3154_3155fs
1 paper
NM_002693.3
p.G1052delFs
c.3155delC
4 papers
NM_002693.3
p.G1052D
c.3155G>A
1 paper
NM_002693.3
p.G1052R
c.3154G>C
5 papers
NM_002693.3
p.G1052S
c.3154G>A
1 paper
NM_002693.3
p.E1054fs
c.3160_3161fs
2 papers
NM_002693.3
p.G1051W
c.3151G>T
39 papers
NM_002693.3
p.G1051R
c.3151G>C
38 papers
NM_002693.3
p.G1051R
c.3151G>A
1 paper
NM_002693.3
p.K1050delFs
c.3149delT
1 paper
NM_002693.3
p.K1050*
c.3148A>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."