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

Selected Variant

3 papers

NM_001363059.2

p.S236*

c.707C>G

Surrounding Variants

3 papers

NM_001363059.2

p.S236*

c.707C>A

1 paper

NM_001363059.2

p.V233D

c.698T>A

1 paper

NM_001363059.2

p.Y243*

c.729C>G

1 paper

NM_001363059.2

p.Y243*

c.729C>A

2 papers

NM_001363059.2

p.E226E

c.678A>G

1 paper

NM_001363059.2

p.D224delFs

c.672delA

2 papers

NM_001363059.2

p.D248D

c.744T>C

1 paper

NM_001363059.2

p.V250L

c.748G>T

1 paper

NM_001363059.2

p.V250L

c.748G>C

1 paper

NM_001363059.2

p.E220A

c.659A>C

1 paper

NM_001363059.2

p.A218T

c.652G>A

1 paper

NM_001363059.2

p.S211A

c.631T>G