Varaico: Literature-Extracted Genetic Variants

Gene:BRSK2
Variant:p.L148delFs

BRSK2

81 papers

Pfam Domains

Pkinaseaa 19–270UCSCProtein kinase domain
Pkinaseaa 19–270UCSCProtein kinase domain
UBA_BRSKaa 299–341UCSCBRSK1/2 UBA domain
UBA_BRSKaa 299–341UCSCBRSK1/2 UBA domain
UBA_BRSKaa 299–341UCSCBRSK1/2 UBA domain
KA1_BRSKaa 523–635UCSCBRSK1/2 KA1 domain

Gene Aliases

HGNC Name

BR serine/threonine kinase 2

HGNC Previous Symbol

STK29

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001256627.2
p.L148delFs
c.442delC
Surrounding Variants
1 paper
NM_001256627.2
p.L148fs
c.442_443fs
3 papers
NM_001256627.2
p.L148Q
c.443T>A
1 paper
NM_001256627.2
p.N146D
c.436A>G
1 paper
NM_001256627.2
p.D141N
c.421G>A
3 papers
NM_001256627.2
p.A158T
c.472G>A
1 paper
NM_001256627.2
p.F160_M162del3
c.478_485del9
2 papers
NM_001256627.2
p.A163V
c.488C>T
3 papers
NM_001256627.2
p.T174A
c.520A>G
2 papers
NM_001256627.2
p.G177Splc
c.530+1G>A
1 paper
NM_001256627.2
p.H180P
c.539A>C
1 paper
NM_001256627.2
p.E185insFs
c.553_554insGG
1 paper
NM_001256630.1
p.D239delFs
c.715delG
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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."