Varaico: Literature-Extracted Genetic Variants

Gene:MAST1
Variant:p.L1180R

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
4 papers
NM_014975.3
p.L1180R
c.3539T>G
Surrounding Variants
1 paper
NM_014975.3
p.P1177P
c.3531C>T
5 papers
NM_014975.3
p.P1177R
c.3530C>G
1 paper
NM_014975.3
p.R1142H
c.3425G>A
1 paper
NM_014975.3
p.S1136L
c.3407C>T
1 paper
NM_014975.3
p.R1257H
c.3770G>A
1 paper
NM_014975.3
p.L1132M
c.3394C>A
1 paper
NM_014975.3
p.R1263R
c.3789C>A
1 paper
NM_014975.3
p.S1108N
c.3323G>A
1 paper
NM_014975.3
p.G1312R
c.3934G>C
1 paper
NM_014975.3
p.G1364E
c.4091G>A
1 paper
NM_014975.3
p.G1365S
c.4093G>A
1 paper
NM_014975.3
p.P1372H
c.4115C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."