Varaico: Literature-Extracted Genetic Variants

Gene:MASTL
Variant:p.E167D

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
8 papers
NM_001172303.3
p.E167D
c.501G>C
Surrounding Variants
8 papers
NM_001172303.3
p.E167D
c.501G>T
1 paper
NM_001172303.3
p.D174A
c.521A>C
1 paper
NM_001172303.3
p.R155Splc
c.464+103T>G
1 paper
NM_001172303.3
p.E139Q
c.415G>C
1 paper
NM_001172303.3
p.Y136C
c.407A>G
1 paper
NM_001172303.3
p.S120F
c.359C>T
1 paper
NM_001172303.3
p.G116_V118del0
c.346_354del9
1 paper
NM_001172303.3
p.L113P
c.338T>C
1 paper
NM_001172303.3
p.L108_V109Splc
c.324+4A>C
1 paper
NM_001172303.3
p.A103S
c.307G>T
1 paper
NM_001172303.3
p.K65R
c.194A>G
1 paper
NM_001172303.3
p.T193A
c.577A>G
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