Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.C1077Y

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.C1077Y
c.3230G>A
Surrounding Variants
3 papers
NM_002693.3
p.C1077G
c.3229T>G
17 papers
NM_002693.3
p.G1076V
c.3227G>T
5 papers
NM_002693.3
p.I1079L
c.3235A>C
2 papers
NM_002693.3
p.S1080I
c.3239G>T
5 papers
NM_002693.3
p.S1080T
c.3239G>C
2 papers
NM_002693.3
p.R1081P
c.3242G>C
7 papers
NM_002693.3
p.R1081Q
c.3242G>A
25 papers
NM_002693.3
p.P1073L
c.3218C>T
2 papers
NM_002693.3
p.P1073A
c.3217C>G
3 papers
NM_002693.3
p.R1081R
c.3243A>T
317 papers
NM_002693.3
p.R1081R
c.3243A>G
1 paper
NM_002693.3
p.S1080_R1081ins0
c.3240_3242dupCCG
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."