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.R338S

c.1014A>T

Surrounding Variants

1 paper

NM_001363059.2

p.R338S

c.1014A>C

1 paper

NM_001363059.2

p.E339D

c.1017G>T

1 paper

NM_001363059.2

p.E339D

c.1017G>C

1 paper

NM_001363059.2

p.L337V

c.1009C>G

1 paper

NM_001363059.2

p.M333I

c.999G>T

1 paper

NM_001363059.2

p.M333I

c.999G>C

1 paper

NM_001363059.2

p.M333I

c.999G>A

1 paper

NM_001363059.2

p.E332K

c.994G>A

1 paper

NM_001363059.2

p.E321K

c.961G>A

1 paper

NM_001363059.2

p.D304Y

c.910G>T

2 papers

NM_001363059.2

p.N303S

c.908A>G

1 paper

NM_001363059.2

p.K382Fs

c.1144delinsAAGFs