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.E1105Q

c.3313G>C

Surrounding Variants

1 paper

NM_001363059.2

p.D1107N

c.3319G>A

1 paper

NM_001363059.2

p.E1111G

c.3332A>G

1 paper

NM_001363059.2

p.E1096K

c.3286G>A

1 paper

NM_001363059.2

p.D1086G

c.3257A>G

1 paper

NM_001363059.2

p.L1084V

c.3250C>G

1 paper

NM_001363059.2

p.H1077L

c.3230A>T

1 paper

NM_001363059.2

p.T1021A

c.3061A>G

1 paper

NM_001363059.2

p.T1001insFs

c.3001dupA

1 paper

NM_001363059.2

p.Q997P

c.2990A>C

1 paper

NM_001363059.2

p.L1143Q

c.3428T>A

2 papers

NM_001363059.2

p.R1191W

c.3571C>T

1 paper

NM_001363059.2

p.D1193delFs

c.3577_3578delTC