Varaico: Literature-Extracted Genetic Variants

Gene:POLG2
Variant:p.H47P

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.H47P
c.140A>C
Surrounding Variants
1 paper
NM_007215.4
p.A48E
c.143C>A
2 papers
NM_007215.4
p.K45R
c.134A>G
1 paper
NM_007215.4
p.V44M
c.130G>A
1 paper
NM_007215.4
p.H43L
c.128A>T
2 papers
NM_007215.4
p.S38N
c.113G>A
1 paper
NM_007215.4
p.A59P
c.175G>C
1 paper
NM_007215.4
p.E35G
c.104A>G
1 paper
NM_007215.4
p.L33F
c.99G>T
1 paper
NM_007215.4
p.L33F
c.99G>C
1 paper
NM_007215.4
p.L33W
c.98T>G
1 paper
NM_007215.4
p.G63R
c.187G>A
1 paper
NM_007215.4
p.G63G
c.189A>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."