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

1 paper

NM_024083.4

p.D351A

c.1052A>C

Surrounding Variants

1 paper

NM_024083.4

p.V352L

c.1054G>C

1 paper

NM_024083.4

p.V352L

c.1054G>T

1 paper

NM_024083.4

p.V352fs

c.1054_1055fs

1 paper

NM_024083.4

p.F345L

c.1035T>A

1 paper

NM_024083.4

p.F345L

c.1035T>G

1 paper

NM_024083.4

p.F345L

c.1033T>C

1 paper

NM_024083.4

p.D342E

c.1026T>A

1 paper

NM_024083.4

p.D342E

c.1026T>G

1 paper

NM_024083.4

p.A335Fs

c.1003delinsGAFs

1 paper

NM_024083.4

p.V324insFs

c.971_972insG

1 paper

NM_024083.4

p.V323M

c.967G>A

2 papers

NM_024083.4

p.E321K

c.961G>A