Varaico: Literature-Extracted Genetic Variants

MAST1

131 papers

RefSeq Summary

This gene is a member of the microtubule-associated serine/threonine kinase (MAST) family. The protein encoded by this gene has an N-terminal serine/threonine kinase domain followed by a postsynaptic ...

Pfam Domains

DUF1908aa 61–337UCSCDomain of unknown function (DUF1908)

Pkinaseaa 374–647UCSCProtein kinase domain

PDZ_6aa 999–1051UCSCPDZ domain

Gene Aliases

HGNC Name

microtubule associated serine/threonine kinase 1

HGNC Alias Symbols

SAST; KIAA0973

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014975.3

p.D515N

c.1543G>A

Surrounding Variants

2 papers

NM_014975.3

p.F516S

c.1547T>C

1 paper

NM_014975.3

p.L513F

c.1537C>T

10 papers

NM_014975.3

p.G517S

c.1549G>A

1 paper

NM_014975.3

p.K520ins3

c.1559_1560ins9

4 papers

NM_014975.3

p.G522E

c.1565G>A

1 paper

NM_014975.3

p.T506N

c.1517C>A

1 paper

NM_014975.3

p.N529S

c.1586A>G

1 paper

NM_014975.3

p.E536_K537del2

c.1606_1610del6

1 paper

NM_014975.3

p.E536_K537del1

c.1607_1609delAGA

2 papers

NM_014975.3

p.D544N

c.1630G>A

9 papers

NM_014975.3

p.P500L

c.1499C>T

1 paper

NM_014975.3

p.R496C

c.1486C>T