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

2 papers

NM_014975.3

p.R66Q

c.197G>A

Surrounding Variants

1 paper

NM_014975.3

p.R66P

c.197G>C

1 paper

NM_014975.3

p.N67K

c.201C>A

1 paper

NM_014975.3

p.N67K

c.201C>G

1 paper

NM_014975.3

p.A74T

c.220G>A

1 paper

NM_014975.3

p.A79_S80del2

c.235_239del6

1 paper

NM_014975.3

p.A79V

c.236C>T

2 papers

NM_014975.3

p.S81Y

c.242C>A

1 paper

NM_014975.3

p.L57V

c.169C>G

1 paper

NM_014975.3

p.H50insFs

c.149dupA

1 paper

NM_014975.3

p.R34W

c.100C>T

1 paper

NM_014975.3

p.K27fs

c.79_80fs

1 paper

NM_014975.3

p.K27delFs

c.79_80delAA