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.N572K

c.1716C>G

Surrounding Variants

1 paper

NM_001363059.2

p.N572K

c.1716C>A

6 papers

NM_001363059.2

p.H575R

c.1724A>G

1 paper

NM_001363059.2

p.A567fs

c.1699_1700fs

1 paper

NM_001363059.2

p.K581T

c.1742A>C

1 paper

NM_001363059.2

p.A563S

c.1687G>T

1 paper

NM_001363059.2

p.T556A

c.1666A>G

1 paper

NM_001363059.2

p.S544*

c.1631C>G

1 paper

NM_001363059.2

p.S544*

c.1631C>A

2 papers

NM_001363059.2

p.K609Q

c.1825A>C

1 paper

NM_001363059.2

p.S610L

c.1829C>T

1 paper

NM_001363059.2

p.S619N

c.1856G>A

1 paper

NM_001363059.2

p.N622K

c.1866C>G