Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.L239P

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.L239P
c.716T>C
Surrounding Variants
1 paper
NM_002693.3
p.Q238R
c.713A>G
11 papers
NM_002693.3
p.P241L
c.722C>T
1 paper
NM_002693.3
p.A242V
c.725C>T
1 paper
NM_002693.3
p.T236S
c.706A>T
1 paper
NM_002693.3
p.T236A
c.706A>G
1 paper
NM_002693.3
p.W223_S234ins4
c.667_702dup36
9 papers
NM_002693.3
p.W235*
c.705G>A
1 paper
NM_002693.3
p.D243N
c.727G>A
1 paper
NM_002693.3
p.W235S
c.704G>C
9 papers
NM_002693.3
p.W235*
c.704G>A
1 paper
NM_002693.3
p.D243G
c.728A>G
1 paper
NM_002693.3
p.W235R
c.703T>C
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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."