Varaico: Literature-Extracted Genetic Variants

Gene:MAST1
Variant:p.R702H

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.R702H
c.2105G>A
Surrounding Variants
2 papers
NM_014975.3
p.E697del1
c.2089_2090delGAG
1 paper
NM_014975.3
p.R681K
c.2042G>A
2 papers
NM_014975.3
p.P664H
c.1991C>A
1 paper
NM_014975.3
p.P745L
c.2234C>T
1 paper
NM_014975.3
p.W766R
c.2296T>A
1 paper
NM_014975.3
p.W766R
c.2296T>C
1 paper
NM_014975.3
p.G769D
c.2306G>A
1 paper
NM_014975.3
p.G769G
c.2307C>T
1 paper
NM_014975.3
p.S623R
c.1869C>A
1 paper
NM_014975.3
p.S623R
c.1869C>G
1 paper
NM_014975.3
p.S623R
c.1867A>C
1 paper
NM_014975.3
p.I621T
c.1862T>C
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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."