Varaico: Literature-Extracted Genetic Variants

Gene:POLG2
Variant:p.T392A

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.T392A
c.1174A>G
Surrounding Variants
1 paper
NM_007215.4
p.P391L
c.1172C>T
1 paper
NM_007215.4
p.E394A
c.1181A>C
1 paper
NM_007215.4
p.R389K
c.1166G>A
1 paper
NM_007215.4
p.R389G
c.1165A>G
1 paper
NM_007215.4
p.G388E
c.1163G>A
1 paper
NM_007215.4
p.R396G
c.1186A>G
5 papers
NM_007215.4
p.D386E
c.1158T>G
5 papers
NM_007215.4
p.D386E
c.1158T>A
1 paper
NM_007215.4
p.H375_P376ins5
c.1123_1127ins15
1 paper
NM_007215.4
p.F403insFs
c.1207_1208ins4
1 paper
NM_007215.4
p.F403ins3
c.1207_1208ins9
6 papers
NM_007215.4
p.F403ins8
c.1207_1208ins24
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."