Varaico: Literature-Extracted Genetic Variants

Gene:POLG2
Variant:p.E405K

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.E405K
c.1213G>A
Surrounding Variants
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
1 paper
NM_007215.4
p.F403ins8
c.1207_1208ins24
12 papers
NM_007215.4
p.G416A
c.1247G>C
1 paper
NM_007215.4
p.T420A
c.1258A>G
4 papers
NM_007215.4
p.S423Y
c.1268C>A
1 paper
NM_007215.4
p.S423S
c.1269C>T
1 paper
NM_007215.4
p.S424A
c.1270T>G
1 paper
NM_007215.4
p.S424P
c.1270T>C
2 papers
NM_007215.4
p.L428P
c.1283T>C
7 papers
NM_007215.4
p.D433Y
c.1297G>T
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