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.R1546Q

c.4637G>A

Surrounding Variants

2 papers

NM_014975.3

p.Q1540E

c.4618C>G

1 paper

NM_014975.3

p.K1559_K1560ins9

c.4675_4679ins27

1 paper

NM_014975.3

p.P1507L

c.4520C>T

1 paper

NM_014975.3

p.P1498T

c.4492C>A

1 paper

NM_014975.3

p.R1495C

c.4483C>T

1 paper

NM_014975.3

p.P1494A

c.4480C>G

1 paper

NM_014975.3

p.P1471L

c.4412C>T

1 paper

NM_014975.3

p.V1470M

c.4408G>A

1 paper

NM_014975.3

p.A1447V

c.4340C>T

1 paper

NM_014975.3

p.P1432H

c.4295C>A

1 paper

NM_014975.3

p.R1422fs

c.4264_4265fs

1 paper

NM_014975.3

p.G1421_R1422delFs

c.4261_4264del4