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

3 papers

NM_014975.3

p.K276del1

c.826_827delAAG

Surrounding Variants

4 papers

NM_014975.3

p.L278del1

c.832_833delTTG

1 paper

NM_014975.3

p.I282del1

c.844_846delATC

1 paper

NM_014975.3

p.A286P

c.856G>C

1 paper

NM_014975.3

p.C291F

c.872G>T

1 paper

NM_014975.3

p.E312*

c.934G>T

2 papers

NM_014975.3

p.V316E

c.947T>A

1 paper

NM_014975.3

p.G329V

c.986G>T

1 paper

NM_014975.3

p.R332C

c.994C>T

1 paper

NM_014975.3

p.P336P

c.1008A>T

1 paper

NM_014975.3

p.Q344K

c.1030C>A

2 papers

NM_014975.3

p.D356N

c.1066G>A

1 paper

NM_014975.3

p.Y246N

c.736T>A