Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.H277L

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
25 papers
NM_002693.3
p.H277L
c.830A>T
Surrounding Variants
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.F273_H277del5
c.817_830del15
1 paper
NM_002693.3
p.A276P
c.826G>C
1 paper
NM_002693.3
p.R279W
c.835A>T
1 paper
NM_002693.3
p.R279T
c.836G>C
5 papers
NM_002693.3
p.R275Q
c.824G>A
9 papers
NM_002693.3
p.R275*
c.823C>T
13 papers
NM_002693.3
p.D274A
c.821A>C
1 paper
NM_002693.3
p.F273L
c.819T>G
1 paper
NM_002693.3
p.F273L
c.819T>A
1 paper
NM_002693.3
p.F273L
c.817T>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."