Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.A200T

PINK1

1,360 papers

RefSeq Summary

This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form ...

Pfam Domains

Pkinaseaa 264–509UCSCProtein kinase domain

Gene Aliases

HGNC Name

PTEN induced kinase 1

HGNC Previous Symbol

PARK6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032409.3
p.A200T
c.598G>A
Surrounding Variants
1 paper
NM_032409.3
p.A200A
c.600A>C
1 paper
NM_032409.3
p.S199T
c.596G>C
1 paper
NM_032409.3
p.S199Fs
c.595_597delinsCFs
1 paper
NM_032409.3
p.P201S
c.601C>T
1 paper
NM_032409.3
p.G202_E203del1
c.605_607delGAG
2 papers
NM_032409.3
p.G202R
c.604G>A
2 papers
NM_032409.3
p.G202R
c.604G>C
2 papers
NM_032409.3
p.G197G
c.591T>C
19 papers
NM_032409.3
p.P196L
c.587C>T
1 paper
NM_032409.3
p.P196fs
c.586_587fs
5 papers
NM_032409.3
p.P196S
c.586C>T
4 papers
NM_032409.3
p.G195G
c.585C>T
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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."