Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.Q1154R

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.Q1154R
c.3461A>G
Surrounding Variants
1 paper
NM_002693.3
p.Q1154*
c.3460C>T
1 paper
NM_002693.3
p.A1152P
c.3454G>C
1 paper
NM_002693.3
p.A1152T
c.3454G>A
4 papers
NM_002693.3
p.N1157S
c.3470A>G
1 paper
NM_002693.3
p.A1149T
c.3445G>A
1 paper
NM_002693.3
p.R1148H
c.3443G>A
2 papers
NM_002693.3
p.R1148C
c.3442C>T
3 papers
NM_002693.3
p.R1161Splc
c.3482+2T>C
17 papers
NM_002693.3
p.R1146C
c.3436C>T
1 paper
NM_002693.3
p.D1145insFs
c.3433_3434ins4
3 papers
NM_002693.3
p.R1161Splc
c.3482+6C>T
1 paper
NM_002693.3
p.R1161Splc
c.3482+6C>G
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."