Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.P611L

POLG

1,910 papers

RefSeq Summary

Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA...

Pfam Domains

DNApol_Exoaa 121–414UCSCDNA mitochondrial polymerase exonuclease domain

Gene Aliases

HGNC Name

DNA polymerase gamma, catalytic subunit

HGNC Alias Symbols

POLG1; POLGA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002693.3
p.P611L
c.1832C>T
Surrounding Variants
1 paper
NM_002693.3
p.P611H
c.1832C>A
1 paper
NM_002693.3
p.P611S
c.1831C>T
6 papers
NM_002693.3
p.H613Y
c.1837C>T
2 papers
NM_002693.3
p.H613D
c.1837C>G
1 paper
NM_002693.3
p.Y614H
c.1840T>C
1 paper
NM_002693.3
p.T606_W607delFs
c.1816_1820del5
1 paper
NM_002693.3
p.S615fs
c.1843_1844fs
2 papers
NM_002693.3
p.T606fs
c.1816_1817fs
8 papers
NM_002693.3
p.R617C
c.1849C>T
8 papers
NM_002693.3
p.L605R
c.1814T>G
1 paper
NM_002693.3
p.R617delins
c.1849_1851delinsTGA
6 papers
NM_002693.3
p.M603T
c.1808T>C
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