Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.G517V

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
71 papers
NM_002693.3
p.G517V
c.1550G>T
Surrounding Variants
1 paper
NM_002693.3
p.G517W
c.1549G>T
1 paper
NM_002693.3
p.E516E
c.1548G>A
1 paper
NM_002693.3
p.P521fs
c.1561_1562fs
1 paper
NM_002693.3
p.L513F
c.1539G>C
1 paper
NM_002693.3
p.P521delFs
c.1562delG
5 papers
NM_002693.3
p.K512M
c.1535A>T
1 paper
NM_002693.3
p.K512R
c.1535A>G
19 papers
NM_002693.3
p.S511N
c.1532G>A
1 paper
NM_002693.3
p.D523E
c.1569T>G
1 paper
NM_002693.3
p.D523E
c.1569T>A
1 paper
NM_002693.3
p.P524A
c.1570C>G
6 papers
NM_002693.3
p.A510V
c.1529C>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."