Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.H269Y

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.H269Y
c.805C>T
Surrounding Variants
61 papers
NM_002693.3
p.G268A
c.803G>C
1 paper
NM_002693.3
p.G268W
c.802G>T
1 paper
NM_002693.3
p.N270ins2
c.809_810ins6
1 paper
NM_002693.3
p.V271I
c.811G>A
1 paper
NM_002693.3
p.V271_S272ins1
c.813_814insTTT
1 paper
NM_002693.3
p.F273L
c.817T>C
6 papers
NM_002693.3
p.Q264H
c.792G>T
6 papers
NM_002693.3
p.Q264H
c.792G>C
1 paper
NM_002693.3
p.F273L
c.819T>G
1 paper
NM_002693.3
p.F273L
c.819T>A
13 papers
NM_002693.3
p.D274A
c.821A>C
1 paper
NM_002693.3
p.E263G
c.788A>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."