Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.S255R

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.S255R
c.765C>A
Surrounding Variants
2 papers
NM_002693.3
p.P256insFs
c.766_767ins4
1 paper
NM_002693.3
p.S255_P256insFs
c.763_766dup4
1 paper
NM_002693.3
p.P256P
c.768C>G
1 paper
NM_002693.3
p.P256insFs
c.768dupC
1 paper
NM_002693.3
p.T257I
c.770C>T
1 paper
NM_002693.3
p.E248_G252delFs
c.743_755del13
1 paper
NM_002693.3
p.T257_R259del0
c.771_776del6
171 papers
NM_002693.3
p.T251I
c.752C>T
2 papers
NM_002693.3
p.W261*
c.782G>A
1 paper
NM_002693.3
p.P250S
c.748C>T
1 paper
NM_002693.3
p.W261*
c.783G>A
1 paper
NM_002693.3
p.Q262*
c.784C>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."