Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.I284N

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
32 papers
NM_002693.3
p.I284N
c.851T>A
Surrounding Variants
3 papers
NM_002693.3
p.I284I
c.852C>T
1 paper
NM_002693.3
p.Q285R
c.854A>G
2 papers
NM_002693.3
p.Q285H
c.855G>T
2 papers
NM_002693.3
p.Q285H
c.855G>C
6 papers
NM_002693.3
p.Y282D
c.844T>G
1 paper
NM_002693.3
p.R279T
c.836G>C
1 paper
NM_002693.3
p.R279W
c.835A>T
1 paper
NM_002693.3
p.F273_H277del5
c.817_830del15
25 papers
NM_002693.3
p.H277L
c.830A>T
1 paper
NM_002693.3
p.H277R
c.830A>G
1 paper
NM_002693.3
p.H277P
c.830A>C
1 paper
NM_002693.3
p.A276P
c.826G>C
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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."