Varaico: Literature-Extracted Genetic Variants

ASPSCR1

97 papers

RefSeq Summary

The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle a...

Pfam Domains

TUG-UBL1aa 15–78UCSCTUG ubiquitin-like domain

UBXaa 386–463UCSCUBX domain

Gene Aliases

HGNC Name

ASPSCR1 tether for SLC2A4, UBX domain containing

HGNC Alias Symbols

ASPS; ASPL; UBXD9; UBXN9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_024083.4

p.V139M

c.415G>A

Surrounding Variants

1 paper

NM_024083.4

p.T141T

c.423G>A

1 paper

NM_024083.4

p.T135A

c.403A>G

1 paper

NM_024083.4

p.R125Splc

c.375-1G>T

1 paper

NM_024083.4

p.T146M

c.437C>T

1 paper

NM_024083.4

p.A150T

c.448G>A

1 paper

NM_024083.4

p.A150D

c.449C>A

1 paper

NM_024083.4

p.T162T

c.486C>T

1 paper

NM_024083.4

p.V171D

c.512T>A

1 paper

NM_024083.4

p.S187L

c.560C>T

1 paper

NM_024083.4

p.A191V

c.572C>T

1 paper

NM_024083.4

p.A196T

c.586G>A

1 paper

NM_024083.4

p.P201S

c.601C>T