Varaico: Literature-Extracted Genetic Variants

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

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

1–12 of 142 variants

6 papers

NM_001363059.2

p.H575R

c.1724A>G

5 papers

NM_001363059.2

p.C148R

c.442T>C

4 papers

NM_001363059.2

p.Y29*

c.87C>G

4 papers

NM_001363059.2

p.Y29*

c.87C>A

4 papers

NM_001363059.2

p.P503R

c.1508C>G

4 papers

NM_001363059.2

p.N873H

c.2617A>C

3 papers

NM_001363059.2

p.S236*

c.707C>G

3 papers

NM_001363059.2

p.S236*

c.707C>A

3 papers

NM_001363059.2

p.K453T

c.1358A>C

3 papers

NM_001363059.2

p.G862Splc

c.2585-1G>T

3 papers

NM_001363059.2

p.K911T

c.2732A>C

3 papers

NM_001363059.2

p.E1105Q

c.3313G>C