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.G285delFs

c.853delC

Surrounding Variants

1 paper

NM_001363059.2

p.K287K

c.861G>A

1 paper

NM_001363059.2

p.L283P

c.848T>C

1 paper

NM_001363059.2

p.Q281K

c.841C>A

1 paper

NM_001363059.2

p.T293A

c.877A>G

1 paper

NM_001363059.2

p.D277G

c.830A>G

1 paper

NM_001363059.2

p.T272S

c.815C>G

1 paper

NM_001363059.2

p.T272S

c.814A>T

2 papers

NM_001363059.2

p.N303S

c.908A>G

1 paper

NM_001363059.2

p.D304Y

c.910G>T

2 papers

NM_001363059.2

p.S267P

c.799T>C

1 paper

NM_001363059.2

p.C264Y

c.791G>A

1 paper

NM_001363059.2

p.E321K

c.961G>A