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

1 paper

NM_001363059.2

p.K99R

c.296A>G

Surrounding Variants

1 paper

NM_001363059.2

p.C103S

c.307T>A

1 paper

NM_001363059.2

p.C103S

c.308G>C

1 paper

NM_001363059.2

p.Q104H

c.312G>T

1 paper

NM_001363059.2

p.Q104H

c.312G>C

1 paper

NM_001363059.2

p.V94M

c.280G>A

1 paper

NM_001363059.2

p.S91T

c.272G>C

1 paper

NM_001363059.2

p.E112K

c.334G>A

1 paper

NM_001363059.2

p.S86C

c.257C>G

1 paper

NM_001363059.2

p.Q75K

c.223C>A

1 paper

NM_001363059.2

p.E125A

c.374A>C

1 paper

NM_001363059.2

p.N69K

c.207T>A

1 paper

NM_001363059.2

p.S135F

c.404C>T