Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.S433fs

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.S433fs
c.1297_1298fs
Surrounding Variants
10 papers
NM_002693.3
p.S433C
c.1298C>G
1 paper
NM_002693.3
p.S433_Y434delFs
c.1297_1300del4
12 papers
NM_002693.3
p.G431V
c.1292G>T
1 paper
NM_002693.3
p.G431C
c.1291G>T
1 paper
NM_002693.3
p.G431R
c.1291G>C
1 paper
NM_002693.3
p.G431S
c.1291G>A
1 paper
NM_002693.3
p.L435L
c.1303C>T
15 papers
NM_002693.3
p.M430L
c.1288A>T
14 papers
NM_002693.3
p.M430L
c.1288A>C
1 paper
NM_002693.3
p.E429G
c.1286A>G
1 paper
NM_002693.3
p.V437I
c.1309G>A
1 paper
NM_002693.3
p.V437fs
c.1309_1310fs
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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."