Varaico: Literature-Extracted Genetic Variants

Gene:MASTL
Variant:p.D537N

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
3 papers
NM_001172303.3
p.D537N
c.1609G>A
Surrounding Variants
1 paper
NM_001172303.3
p.D537V
c.1610A>T
1 paper
NM_001172303.3
p.N531fs
c.1591_1592fs
1 paper
NM_001172303.3
p.S552G
c.1654A>G
1 paper
NM_001172303.3
p.S552T
c.1655G>C
1 paper
NM_001172303.3
p.D515G
c.1544A>G
1 paper
NM_001172303.3
p.D502G
c.1505A>G
1 paper
NM_001172303.3
p.R592G
c.1774A>G
1 paper
NM_001172303.3
p.Q480E
c.1438C>G
1 paper
NM_001172303.3
p.I594I
c.1782C>T
4 papers
NM_001172303.3
p.S597F
c.1790C>T
4 papers
NM_001172303.3
p.V610I
c.1828G>A
1 paper
NM_001172303.3
p.I458fs
c.1372_1373fs
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