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.Y246N

c.736T>A

Surrounding Variants

1 paper

NM_014975.3

p.G238D

c.713G>A

4 papers

NM_014975.3

p.L232P

c.695T>C

1 paper

NM_014975.3

p.R229P

c.686G>C

1 paper

NM_014975.3

p.I224T

c.671T>C

1 paper

NM_014975.3

p.Q223_D230del0

c.669_689del21

1 paper

NM_014975.3

p.R198C

c.592C>T

3 papers

NM_014975.3

p.E194del1

c.580_581delGAG

1 paper

NM_014975.3

p.P187R

c.560C>G

1 paper

NM_014975.3

p.N179delFs

c.536_537delAT

1 paper

NM_014975.3

p.S167P

c.499T>C

2 papers

NM_014975.3

p.E141K

c.421G>A

1 paper

NM_014975.3

p.H136N

c.406C>A