Varaico: Literature-Extracted Genetic Variants

Gene:MASTL
Variant:p.S434_E436delFs

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.S434_E436delFs
c.1302_1306del5
Surrounding Variants
2 papers
NM_001172303.3
p.S452Y
c.1355C>A
1 paper
NM_001172303.3
p.I458fs
c.1372_1373fs
1 paper
NM_001172303.3
p.W399*
c.1197G>A
1 paper
NM_001172303.3
p.W399*
c.1196G>A
1 paper
NM_001172303.3
p.K391fs
c.1171_1172fs
1 paper
NM_001172303.3
p.K391fs
c.1171_1172fs
1 paper
NM_001172303.3
p.K390insFs
c.1168_1169insA
1 paper
NM_001172303.3
p.K390delFs
c.1168delA
1 paper
NM_001172303.3
p.Q480E
c.1438C>G
1 paper
NM_001172303.3
p.R383C
c.1147C>T
1 paper
NM_001172303.3
p.S376C
c.1126A>T
1 paper
NM_001172303.3
p.D502G
c.1505A>G
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