Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.E263ins1

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.E263ins1
c.788_789insTCT
Surrounding Variants
1 paper
NM_002693.3
p.E263G
c.788A>G
2 papers
NM_002693.3
p.E263K
c.787G>A
6 papers
NM_002693.3
p.Q264H
c.792G>T
6 papers
NM_002693.3
p.Q264H
c.792G>C
1 paper
NM_002693.3
p.Q262*
c.784C>T
1 paper
NM_002693.3
p.W261*
c.783G>A
2 papers
NM_002693.3
p.W261*
c.782G>A
1 paper
NM_002693.3
p.T257_R259del0
c.771_776del6
1 paper
NM_002693.3
p.G268W
c.802G>T
61 papers
NM_002693.3
p.G268A
c.803G>C
2 papers
NM_002693.3
p.H269Y
c.805C>T
1 paper
NM_002693.3
p.T257I
c.770C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."