Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.T423I

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.T423I
c.1268C>T
Surrounding Variants
1 paper
NM_002693.3
p.V422M
c.1264G>A
1 paper
NM_002693.3
p.L424delFs
c.1270_1271delAG
10 papers
NM_002693.3
p.G426S
c.1276G>A
1 paper
NM_002693.3
p.G426D
c.1277G>A
1 paper
NM_002693.3
p.P419L
c.1256C>T
1 paper
NM_002693.3
p.L428V
c.1282C>G
12 papers
NM_002693.3
p.L428P
c.1283T>C
1 paper
NM_002693.3
p.C418Y
c.1253G>A
1 paper
NM_002693.3
p.C418G
c.1252T>G
14 papers
NM_002693.3
p.C418R
c.1252T>C
10 papers
NM_002693.3
p.R417T
c.1250G>C
1 paper
NM_002693.3
p.R417K
c.1250G>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."