Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.S462L

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.S462L
c.1385C>T
Surrounding Variants
16 papers
NM_002693.3
p.L463F
c.1389G>T
14 papers
NM_002693.3
p.L463F
c.1389G>C
1 paper
NM_002693.3
p.M464T
c.1391T>C
1 paper
NM_002693.3
p.M464I
c.1392G>C
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.L466L
c.1398G>A
3 papers
NM_002693.3
p.A467P
c.1399G>C
424 papers
NM_002693.3
p.A467T
c.1399G>A
3 papers
NM_002693.3
p.R457Q
c.1370G>A
1 paper
NM_002693.3
p.A467G
c.1400C>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."