Varaico: Literature-Extracted Genetic Variants

Gene:POLG2
Variant:p.N359D

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.N359D
c.1075A>G
Surrounding Variants
1 paper
NM_007215.4
p.T357T
c.1071A>G
1 paper
NM_007215.4
p.L356del1
c.1066_1067delCAG
1 paper
NM_007215.4
p.F361Y
c.1082T>A
1 paper
NM_007215.4
p.T362I
c.1085C>T
1 paper
NM_007215.4
p.K364N
c.1092G>T
1 paper
NM_007215.4
p.K364N
c.1092G>C
2 papers
NM_007215.4
p.Y351C
c.1052A>G
1 paper
NM_007215.4
p.L367H
c.1100T>A
1 paper
NM_007215.4
p.Y349N
c.1045T>A
2 papers
NM_007215.4
p.R369*
c.1105A>T
23 papers
NM_007215.4
p.R369G
c.1105A>G
2 papers
NM_007215.4
p.R344Q
c.1031G>A
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