Varaico: Literature-Extracted Genetic Variants

Gene:POLG2
Variant:p.W114*

POLG2

352 papers

RefSeq Summary

This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This prot...

Pfam Domains

HGTP_anticodonaa 379–478UCSCAnticodon binding domain

Gene Aliases

HGNC Name

DNA polymerase gamma 2, accessory subunit

HGNC Alias Symbols

MTPOLB; HP55

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007215.4
p.W114*
c.342G>A
Surrounding Variants
1 paper
NM_007215.4
p.W114*
c.341G>A
1 paper
NM_007215.4
p.F121V
c.361T>G
1 paper
NM_007215.4
p.R107Q
c.320G>A
1 paper
NM_007215.4
p.V125_F126insFs
c.375_376ins5
5 papers
NM_007215.4
p.G103D
c.308G>A
2 papers
NM_007215.4
p.G103S
c.307G>A
1 paper
NM_007215.4
p.L102L
c.306G>A
1 paper
NM_007215.4
p.F126L
c.378C>A
1 paper
NM_007215.4
p.F99S
c.296T>C
1 paper
NM_007215.4
p.A130P
c.388G>C
1 paper
NM_007215.4
p.L131H
c.392T>A
1 paper
NM_007215.4
p.C95*
c.285C>A
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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."