Varaico: Literature-Extracted Genetic Variants

Gene:MASTL
Variant:p.V283M

MASTL

111 papers

RefSeq Summary

This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternative...

Pfam Domains

Pkinaseaa 35–202UCSCProtein kinase domain
Pkinaseaa 728–835UCSCProtein kinase domain

Gene Aliases

HGNC Name

microtubule associated serine/threonine kinase like

HGNC Alias Symbols

FLJ14813; THC2; Gwl

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001172303.3
p.V283M
c.847G>A
Surrounding Variants
1 paper
NM_001172303.3
p.P279R
c.836C>G
1 paper
NM_001172303.3
p.S288C
c.863C>G
2 papers
NM_001172303.3
p.L291F
c.871C>T
1 paper
NM_001172303.3
p.P321H
c.962C>A
1 paper
NM_001172303.3
p.C271Splc
c.811+2T>G
1 paper
NM_001172303.3
p.S254P
c.760T>C
1 paper
NM_001172303.3
p.T194A
c.580A>G
1 paper
NM_001172303.3
p.T193A
c.577A>G
1 paper
NM_001172303.3
p.M339K
c.1016T>A
1 paper
NM_001172303.3
p.K346_A354del9
c.1036_1061del27
1 paper
NM_001172303.3
p.T357M
c.1070C>T
1 paper
NM_001172303.3
p.E366*
c.1096G>T
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