Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.Y986D

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
5 papers
NM_002693.3
p.Y986D
c.2956T>G
Surrounding Variants
1 paper
NM_002693.3
p.Y986F
c.2957A>T
1 paper
NM_002693.3
p.M985R
c.2954T>G
1 paper
NM_002693.3
p.Q984E
c.2950C>G
1 paper
NM_002693.3
p.A988_T989ins0
c.2963_2965dupCCA
1 paper
NM_002693.3
p.L992R
c.2975T>G
3 papers
NM_002693.3
p.R993C
c.2977C>T
3 papers
NM_002693.3
p.R993H
c.2978G>A
1 paper
NM_002693.3
p.Q976_E977insC
c.2926_2930ins3
1 paper
NM_002693.3
p.Q975*
c.2923C>T
2 papers
NM_002693.3
p.Q975_Q976insC
c.2923_2927ins3
1 paper
NM_002693.3
p.R972Q
c.2915G>A
1 paper
NM_002693.3
p.R972W
c.2914C>T
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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."