Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R443C

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
2 papers
NM_002693.3
p.R443C
c.1327C>T
Surrounding Variants
1 paper
NM_002693.3
p.R443L
c.1328G>T
1 paper
NM_002693.3
p.A446P
c.1336G>C
1 paper
NM_002693.3
p.V437D
c.1310T>A
1 paper
NM_002693.3
p.V437I
c.1309G>A
3 papers
NM_002693.3
p.Q449*
c.1345C>T
1 paper
NM_002693.3
p.V437fs
c.1309_1310fs
1 paper
NM_002693.3
p.L435L
c.1303C>T
1 paper
NM_002693.3
p.S433_Y434delFs
c.1297_1300del4
3 papers
NM_002693.3
p.Y452*
c.1356T>G
1 paper
NM_002693.3
p.Y452*
c.1356T>A
10 papers
NM_002693.3
p.S433C
c.1298C>G
1 paper
NM_002693.3
p.S433fs
c.1297_1298fs
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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."