Varaico: Literature-Extracted Genetic Variants

Gene:MTUS1
Variant:p.N873H

MTUS1

114 papers

RefSeq Summary

This gene encodes a protein which contains a C-terminal domain able to interact with the angiotension II (AT2) receptor and a large coiled-coil region allowing dimerization. Multiple alternatively spl...

Pfam Domains

MTUS1_CCDC69_CC2aa 1133–1204UCSCMTUS1/CCDC69 family second coiled-coil domain
MTUS1_CCDC69_CC2aa 1133–1204UCSCMTUS1/CCDC69 family second coiled-coil domain

Gene Aliases

HGNC Name

microtubule associated scaffold protein 1

HGNC Alias Symbols

MTSG1; KIAA1288; DKFZp586D1519; FLJ14295; ATIP1; MP44; ATBP; ICIS; ATIP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001363059.2
p.N873H
c.2617A>C
Surrounding Variants
1 paper
NM_001363059.2
p.P863T
c.2587C>A
3 papers
NM_001363059.2
p.G862Splc
c.2585-1G>T
2 papers
NM_001363059.2
p.N819H
c.2455A>C
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