Varaico: Literature-Extracted Genetic Variants

Gene:MASTL
Variant:p.V49M

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.V49M
c.145G>A
Surrounding Variants
3 papers
NM_001172303.3
p.G44S
c.130G>A
6 papers
NM_001172303.3
p.R43Q
c.128G>A
1 paper
NM_001172303.3
p.R43P
c.128G>C
2 papers
NM_001172303.3
p.R43L
c.128G>T
1 paper
NM_001172303.3
p.I41L
c.121A>C
1 paper
NM_001172303.3
p.P40H
c.119C>A
1 paper
NM_001172303.3
p.P40R
c.119C>G
3 papers
NM_001172303.3
p.P40T
c.118C>A
3 papers
NM_001172303.3
p.P40S
c.118C>T
1 paper
NM_001172303.3
p.K39N
c.117G>C
1 paper
NM_001172303.3
p.K39N
c.117G>T
1 paper
NM_001172303.3
p.F35L
c.105C>G
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