Varaico: Literature-Extracted Genetic Variants

Gene:POLG2
Variant:p.H192delFs

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.H192delFs
c.575delT
Surrounding Variants
1 paper
NM_007215.4
p.H192fs
c.574_575fs
2 papers
NM_007215.4
p.Y193fs
c.577_578fs
2 papers
NM_007215.4
p.Y193delFs
c.578_579delAT
1 paper
NM_007215.4
p.E191A
c.572A>C
1 paper
NM_007215.4
p.A189G
c.566C>G
1 paper
NM_007215.4
p.G188D
c.563G>A
2 papers
NM_007215.4
p.D198A
c.593A>C
1 paper
NM_007215.4
p.V200I
c.598G>A
7 papers
NM_007215.4
p.P205R
c.614C>G
1 paper
NM_007215.4
p.G212delFs
c.635_636delTC
1 paper
NM_007215.4
p.V218V
c.654T>A
1 paper
NM_007215.4
p.T221P
c.661A>C
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