Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.F750V

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.F750V
c.2248T>G
Surrounding Variants
25 papers
NM_002693.3
p.F749S
c.2246T>C
1 paper
NM_002693.3
p.F749V
c.2245T>G
3 papers
NM_002693.3
p.W748C
c.2244G>T
3 papers
NM_002693.3
p.W748C
c.2244G>C
1 paper
NM_002693.3
p.K751R
c.2252A>G
426 papers
NM_002693.3
p.W748S
c.2243G>C
1 paper
NM_002693.3
p.W748*
c.2243G>A
4 papers
NM_002693.3
p.L752L
c.2254C>T
9 papers
NM_002693.3
p.L752P
c.2255T>C
1 paper
NM_002693.3
p.P753L
c.2258C>T
8 papers
NM_002693.3
p.G746S
c.2236G>A
1 paper
NM_002693.3
p.H754delFs
c.2260delG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."