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

1–12 of 90 variants

11 papers

NM_024083.4

p.L252Q

c.755T>A

2 papers

NM_024083.4

p.E89Q

c.265G>C

2 papers

NM_024083.4

p.V139M

c.415G>A

2 papers

NM_024083.4

p.E321K

c.961G>A

2 papers

NM_024083.4

p.A485V

c.1454C>T

2 papers

NM_024083.4

p.R492Splc

c.1476-2A>G

1 paper

NM_024083.4

p.M1_A2insFs

c.3_4insA

1 paper

NM_024083.4

p.A2V

c.5C>T

1 paper

NM_024083.4

p.V35V

c.105T>G

1 paper

NM_024083.4

p.R41Q

c.122G>A

1 paper

NM_024083.4

p.L63R

c.188T>G

1 paper

NM_024083.4

p.R66*

c.196A>T