Varaico: Literature-Extracted Genetic Variants

Gene:POLG2
Variant:p.G451E

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
24 papers
NM_007215.4
p.G451E
c.1352G>A
Surrounding Variants
1 paper
NM_007215.4
p.E445_R456del12
c.1333_1367del36
1 paper
NM_007215.4
p.V443I
c.1327G>A
1 paper
NM_007215.4
p.M465I
c.1395G>T
1 paper
NM_007215.4
p.M465I
c.1395G>C
1 paper
NM_007215.4
p.M465I
c.1395G>A
1 paper
NM_007215.4
p.M435I
c.1305G>T
1 paper
NM_007215.4
p.M435I
c.1305G>C
1 paper
NM_007215.4
p.M435I
c.1305G>A
1 paper
NM_007215.4
p.H467L
c.1400A>T
1 paper
NM_007215.4
p.E434G
c.1301A>G
7 papers
NM_007215.4
p.D433Y
c.1297G>T
3 papers
NM_007215.4
p.L475delFs
c.1423_1424delAA
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