Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.W486*

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
3 papers
NM_002693.3
p.W486*
c.1457G>A
Surrounding Variants
3 papers
NM_002693.3
p.W486*
c.1458G>A
1 paper
NM_002693.3
p.L488_E489ins8
c.1462_1466ins24
1 paper
NM_002693.3
p.P483L
c.1448C>T
1 paper
NM_002693.3
p.E481insFs
c.1442dupA
1 paper
NM_002693.3
p.K480R
c.1439A>G
3 papers
NM_002693.3
p.K480E
c.1438A>G
1 paper
NM_002693.3
p.Y479*
c.1437C>A
1 paper
NM_002693.3
p.K496N
c.1488G>T
1 paper
NM_002693.3
p.K496N
c.1488G>C
34 papers
NM_002693.3
p.Q497H
c.1491G>T
37 papers
NM_002693.3
p.Q497H
c.1491G>C
4 papers
NM_002693.3
p.K498T
c.1493A>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."