Varaico: Literature-Extracted Genetic Variants

Gene:POLG2
Variant:p.L260R

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
3 papers
NM_007215.4
p.L260R
c.779T>G
Surrounding Variants
2 papers
NM_007215.4
p.L260F
c.778C>T
1 paper
NM_007215.4
p.R259*
c.775C>T
1 paper
NM_007215.4
p.F254L
c.762C>G
1 paper
NM_007215.4
p.F254L
c.762C>A
1 paper
NM_007215.4
p.F254Y
c.761T>A
1 paper
NM_007215.4
p.F254L
c.760T>C
1 paper
NM_007215.4
p.Q250*
c.748C>T
1 paper
NM_007215.4
p.S248L
c.743C>T
1 paper
NM_007215.4
p.S248*
c.743C>G
1 paper
NM_007215.4
p.S248*
c.743C>A
1 paper
NM_007215.4
p.R246K
c.737G>A
1 paper
NM_007215.4
p.W241L
c.722G>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."