Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.A721V

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.A721V
c.2162C>T
Surrounding Variants
27 papers
NM_002693.3
p.R722H
c.2165G>A
1 paper
NM_002693.3
p.T728delFs
c.2184delG
1 paper
NM_002693.3
p.S731N
c.2192G>A
3 papers
NM_002693.3
p.H734Y
c.2200C>T
1 paper
NM_002693.3
p.H734R
c.2201A>G
1 paper
NM_002693.3
p.N736D
c.2206A>G
6 papers
NM_002693.3
p.N736S
c.2207A>G
83 papers
NM_002693.3
p.G737R
c.2209G>C
83 papers
NM_002693.3
p.G737R
c.2209G>A
1 paper
NM_002693.3
p.G737A
c.2210G>C
3 papers
NM_002693.3
p.N740D
c.2218A>G
1 paper
NM_002693.3
p.D741N
c.2221G>A
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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."