Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.A500V

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.A500V
c.1499C>T
Surrounding Variants
2 papers
NM_002693.3
p.K498delFs
c.1493delT
4 papers
NM_002693.3
p.K498T
c.1493A>C
1 paper
NM_002693.3
p.K502K
c.1506G>A
34 papers
NM_002693.3
p.Q497H
c.1491G>T
37 papers
NM_002693.3
p.Q497H
c.1491G>C
1 paper
NM_002693.3
p.K496N
c.1488G>T
1 paper
NM_002693.3
p.K496N
c.1488G>C
1 paper
NM_002693.3
p.K505_A508del4
c.1513_1523del12
6 papers
NM_002693.3
p.A510V
c.1529C>T
19 papers
NM_002693.3
p.S511N
c.1532G>A
5 papers
NM_002693.3
p.K512M
c.1535A>T
1 paper
NM_002693.3
p.K512R
c.1535A>G
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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."