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.K453T

c.1358A>C

Surrounding Variants

1 paper

NM_001363059.2

p.N463fs

c.1387_1388fs

1 paper

NM_001363059.2

p.N463Fs

c.1387delinsAAGFs

1 paper

NM_001363059.2

p.S467L

c.1400C>T

1 paper

NM_001363059.2

p.P477S

c.1429C>T

2 papers

NM_001363059.2

p.P477P

c.1431C>T

1 paper

NM_001363059.2

p.T425M

c.1274C>T

1 paper

NM_001363059.2

p.M418I

c.1254G>A

1 paper

NM_001363059.2

p.M418T

c.1253T>C

1 paper

NM_001363059.2

p.V494I

c.1480G>A

1 paper

NM_001363059.2

p.E498*

c.1492G>T

1 paper

NM_001363059.2

p.P503T

c.1507C>A

4 papers

NM_001363059.2

p.P503R

c.1508C>G