Varaico: Literature-Extracted Genetic Variants

Gene:POLG2
Variant:p.M1T

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.M1T
c.2T>C
Surrounding Variants
1 paper
NM_007215.4
p.M1I
c.3G>T
1 paper
NM_007215.4
p.M1insFs
c.2_3insT
1 paper
NM_007215.4
p.M1I
c.3G>A
1 paper
NM_007215.4
p.R2G
c.4C>G
5 papers
NM_007215.4
p.S3insFs
c.8_9insT
1 paper
NM_007215.4
p.R4H
c.11G>A
1 paper
NM_007215.4
p.R4R
c.12T>A
1 paper
NM_007215.4
p.G23G
c.69T>A
1 paper
NM_007215.4
p.R24G
c.70C>G
1 paper
NM_007215.4
p.A27T
c.79G>A
1 paper
NM_007215.4
p.G28V
c.83G>T
1 paper
NM_007215.4
p.L33W
c.98T>G
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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."