Varaico: Literature-Extracted Genetic Variants

Gene:MAST2
Variant:p.P730L

MAST2

185 papers

Pfam Domains

DUF1908aa 201–475UCSCDomain of unknown function (DUF1908)
Pkinaseaa 512–785UCSCProtein kinase domain
PDZ_6aa 1138–1186UCSCPDZ domain

Gene Aliases

HGNC Name

microtubule associated serine/threonine kinase 2

HGNC Alias Symbols

MAST205; KIAA0807

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015112.3
p.P730L
c.2189C>T
Surrounding Variants
1 paper
NM_015112.3
p.G727delFs
c.2179delG
2 papers
NM_015112.3
p.P724fs
c.2170_2171fs
1 paper
NM_015112.3
p.P724delFs
c.2171delC
1 paper
NM_015112.3
p.V720_V723del4
c.2158_2168del12
1 paper
NM_015112.3
p.Y716N
c.2146T>A
1 paper
NM_015112.3
p.Y702H
c.2104T>C
1 paper
NM_015112.3
p.E695K
c.2083G>A
1 paper
NM_015112.3
p.D740_E741delFs
c.2220_2223del4
2 papers
NM_015112.3
p.E746K
c.2236G>A
1 paper
NM_015112.3
p.G747D
c.2240G>A
1 paper
NM_015112.3
p.A755V
c.2264C>T
1 paper
NM_015112.3
p.L768_E769delFs
c.2303_2306del4
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