Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.C224Y

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
11 papers
NM_002693.3
p.C224Y
c.671G>A
Surrounding Variants
1 paper
NM_002693.3
p.W223S
c.668G>C
1 paper
NM_002693.3
p.S225N
c.674G>A
1 paper
NM_002693.3
p.S225_Q226insFs
c.675_676insA
1 paper
NM_002693.3
p.Q226R
c.677A>G
8 papers
NM_002693.3
p.Q226H
c.678G>T
8 papers
NM_002693.3
p.Q226H
c.678G>C
33 papers
NM_002693.3
p.R227W
c.679C>T
1 paper
NM_002693.3
p.Q226delFs
c.677_678delCT
12 papers
NM_002693.3
p.R227P
c.680G>C
7 papers
NM_002693.3
p.R227Q
c.680G>A
1 paper
NM_002693.3
p.Y221H
c.661T>C
1 paper
NM_002693.3
p.Y221N
c.661T>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."