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

5 papers

NM_001363059.2

p.C148R

c.442T>C

Surrounding Variants

1 paper

NM_001363059.2

p.C148Y

c.443G>A

1 paper

NM_001363059.2

p.A149T

c.445G>A

1 paper

NM_001363059.2

p.G150D

c.449G>A

1 paper

NM_001363059.2

p.D153E

c.459T>G

1 paper

NM_001363059.2

p.S135F

c.404C>T

1 paper

NM_001363059.2

p.D166N

c.496G>A

1 paper

NM_001363059.2

p.D166V

c.497A>T

1 paper

NM_001363059.2

p.E125A

c.374A>C

1 paper

NM_001363059.2

p.A177P

c.529G>C

1 paper

NM_001363059.2

p.E112K

c.334G>A

1 paper

NM_001363059.2

p.T186S

c.556A>T

1 paper

NM_001363059.2

p.T186S

c.557C>G