Varaico: Literature-Extracted Genetic Variants

Gene:POLG2
Variant:p.L139delFs

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.L139delFs
c.416delA
Surrounding Variants
1 paper
NM_007215.4
p.G141R
c.421G>C
1 paper
NM_007215.4
p.G141E
c.422G>A
1 paper
NM_007215.4
p.G136R
c.406G>C
1 paper
NM_007215.4
p.P135L
c.404C>T
1 paper
NM_007215.4
p.L131H
c.392T>A
1 paper
NM_007215.4
p.A130P
c.388G>C
1 paper
NM_007215.4
p.S149F
c.446C>T
1 paper
NM_007215.4
p.F126L
c.378C>A
2 papers
NM_007215.4
p.L153V
c.457C>G
1 paper
NM_007215.4
p.S149_T152del0
c.445_456del12
1 paper
NM_007215.4
p.V125_F126insFs
c.375_376ins5
1 paper
NM_007215.4
p.R154H
c.461G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."