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.H391L

c.1172A>T

Surrounding Variants

1 paper

NM_001363059.2

p.Q389*

c.1165C>T

1 paper

NM_001363059.2

p.K382Fs

c.1144delinsAAGFs

1 paper

NM_001363059.2

p.M418T

c.1253T>C

1 paper

NM_001363059.2

p.M418I

c.1254G>A

1 paper

NM_001363059.2

p.T425M

c.1274C>T

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.R338S

c.1014A>T

1 paper

NM_001363059.2

p.R338S

c.1014A>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