Varaico: Literature-Extracted Genetic Variants

Gene:BRSK1
Variant:p.V722L

BRSK1

120 papers

Pfam Domains

Pkinaseaa 34–285UCSCProtein kinase domain
UBA_BRSKaa 316–358UCSCBRSK1/2 UBA domain
KA1_BRSKaa 597–715UCSCBRSK1/2 KA1 domain

Gene Aliases

HGNC Name

BR serine/threonine kinase 1

HGNC Alias Symbols

KIAA1811; SAD-B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032430.2
p.V722L
c.2164G>C
Surrounding Variants
1 paper
NM_032430.2
p.V722L
c.2164G>T
1 paper
NM_032430.2
p.S721F
c.2162C>T
1 paper
NM_032430.2
p.R700C
c.2098C>T
1 paper
NM_032430.2
p.G685D
c.2054G>A
1 paper
NM_032430.2
p.G683R
c.2047G>A
1 paper
NM_032430.2
p.G683R
c.2047G>C
1 paper
NM_032430.2
p.R678*
c.2032C>T
1 paper
NM_032430.2
p.E674_P675insCG
c.2020_2024ins6
1 paper
NM_032430.2
p.P660P
c.1980C>T
2 papers
NM_032430.2
p.V656I
c.1966G>A
1 paper
NM_032430.2
p.S655P
c.1963T>C
1 paper
NM_032430.2
p.S630_I631Splc
c.1891-6G>T
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