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

1–12 of 141 variants

10 papers

NM_014975.3

p.G517S

c.1549G>A

9 papers

NM_014975.3

p.P500L

c.1499C>T

5 papers

NM_014975.3

p.P1177R

c.3530C>G

4 papers

NM_014975.3

p.S93L

c.278C>T

4 papers

NM_014975.3

p.L232P

c.695T>C

4 papers

NM_014975.3

p.L278del1

c.832_833delTTG

4 papers

NM_014975.3

p.G522E

c.1565G>A

4 papers

NM_014975.3

p.L1180R

c.3539T>G

3 papers

NM_014975.3

p.E194del1

c.580_581delGAG

3 papers

NM_014975.3

p.K276del1

c.826_827delAAG

2 papers

NM_014975.3

p.R66Q

c.197G>A

2 papers

NM_014975.3

p.S81Y

c.242C>A