Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.Y1139*

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.Y1139*
c.3417C>G
Surrounding Variants
2 papers
NM_002693.3
p.Y1139*
c.3417C>A
2 papers
NM_002693.3
p.R1138H
c.3413G>A
15 papers
NM_002693.3
p.R1138C
c.3412C>T
3 papers
NM_002693.3
p.R1142W
c.3424C>T
1 paper
NM_002693.3
p.R1142Q
c.3425G>A
1 paper
NM_002693.3
p.E1143Q
c.3427G>C
19 papers
NM_002693.3
p.E1136K
c.3406G>A
162 papers
NM_002693.3
p.E1143G
c.3428A>G
1 paper
NM_002693.3
p.E1143D
c.3429G>T
1 paper
NM_002693.3
p.E1143D
c.3429G>C
8 papers
NM_002693.3
p.D1135A
c.3404A>C
1 paper
NM_002693.3
p.D1135H
c.3403G>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."