Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.Q449*

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
3 papers
NM_002693.3
p.Q449*
c.1345C>T
Surrounding Variants
1 paper
NM_002693.3
p.A446P
c.1336G>C
3 papers
NM_002693.3
p.Y452*
c.1356T>G
1 paper
NM_002693.3
p.Y452*
c.1356T>A
1 paper
NM_002693.3
p.R443L
c.1328G>T
2 papers
NM_002693.3
p.R443C
c.1327C>T
1 paper
NM_002693.3
p.R457G
c.1369C>G
3 papers
NM_002693.3
p.R457Q
c.1370G>A
1 paper
NM_002693.3
p.M459I
c.1377G>T
1 paper
NM_002693.3
p.M459I
c.1377G>C
1 paper
NM_002693.3
p.M459I
c.1377G>A
1 paper
NM_002693.3
p.V437D
c.1310T>A
1 paper
NM_002693.3
p.V437I
c.1309G>A
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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."