Varaico: Literature-Extracted Genetic Variants

Gene:POLG2

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
1–12 of 170 variants
24 papers
NM_007215.4
p.G451E
c.1352G>A
23 papers
NM_007215.4
p.R369G
c.1105A>G
12 papers
NM_007215.4
p.G416A
c.1247G>C
8 papers
NM_007215.4
p.A169T
c.505G>A
7 papers
NM_007215.4
p.R182W
c.544C>T
7 papers
NM_007215.4
p.P205R
c.614C>G
7 papers
NM_007215.4
p.D433Y
c.1297G>T
6 papers
NM_007215.4
p.G232S
c.694G>A
6 papers
NM_007215.4
p.F403ins8
c.1207_1208ins24
5 papers
NM_007215.4
p.S3insFs
c.8_9insT
5 papers
NM_007215.4
p.G103D
c.308G>A
5 papers
NM_007215.4
p.D386E
c.1158T>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."