Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.W1118R

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.W1118R
c.3352T>A
Surrounding Variants
1 paper
NM_002693.3
p.W1118R
c.3352T>C
1 paper
NM_002693.3
p.L1119P
c.3356T>C
1 paper
NM_002693.3
p.M1116T
c.3347T>C
1 paper
NM_002693.3
p.A1115V
c.3344C>T
3 papers
NM_002693.3
p.E1121G
c.3362A>G
2 papers
NM_002693.3
p.L1113P
c.3338T>C
3 papers
NM_002693.3
p.D1126N
c.3376G>A
12 papers
NM_002693.3
p.H1110Y
c.3328C>T
1 paper
NM_002693.3
p.G1127E
c.3380G>A
3 papers
NM_002693.3
p.R1128C
c.3382C>T
10 papers
NM_002693.3
p.R1128H
c.3383G>A
1 paper
NM_002693.3
p.D1107N
c.3319G>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."