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.V519E

c.1556T>A

Surrounding Variants

1 paper

NM_001363059.2

p.F507L

c.1521C>G

1 paper

NM_001363059.2

p.F507L

c.1521C>A

1 paper

NM_001363059.2

p.F507L

c.1519T>C

1 paper

NM_001363059.2

p.P505Q

c.1514C>A

4 papers

NM_001363059.2

p.P503R

c.1508C>G

1 paper

NM_001363059.2

p.P503T

c.1507C>A

1 paper

NM_001363059.2

p.E498*

c.1492G>T

1 paper

NM_001363059.2

p.S544*

c.1631C>G

1 paper

NM_001363059.2

p.S544*

c.1631C>A

1 paper

NM_001363059.2

p.V494I

c.1480G>A

1 paper

NM_001363059.2

p.T556A

c.1666A>G

2 papers

NM_001363059.2

p.P477P

c.1431C>T