Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.K1035Splc

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.K1035Splc
c.3105-36A>G
Surrounding Variants
3 papers
NM_002693.3
p.K1035Splc
c.3105-11T>C
1 paper
NM_002693.3
p.K1035Splc
c.3105-1G>A
1 paper
NM_002693.3
p.K1039N
c.3117G>T
1 paper
NM_002693.3
p.K1039N
c.3117G>C
1 paper
NM_002693.3
p.W1041L
c.3122G>T
1 paper
NM_002693.3
p.E1042insFs
c.3125dupA
1 paper
NM_002693.3
p.V1043fs
c.3127_3128fs
11 papers
NM_002693.3
p.V1044A
c.3131T>C
1 paper
NM_002693.3
p.E1046*
c.3136G>T
1 paper
NM_002693.3
p.R1047fs
c.3139_3140fs
29 papers
NM_002693.3
p.R1047W
c.3139C>T
9 papers
NM_002693.3
p.R1047Q
c.3140G>A
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."