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.R492Splc

c.1476-2A>G

Surrounding Variants

1 paper

NM_024083.4

p.R492Splc

c.1476-8C>G

1 paper

NM_024083.4

p.S495C

c.1484C>G

1 paper

NM_024083.4

p.S500Y

c.1499C>A

1 paper

NM_024083.4

p.L504S

c.1511T>C

1 paper

NM_024083.4

p.P511H

c.1532C>A

1 paper

NM_024083.4

p.A517V

c.1550C>T

2 papers

NM_024083.4

p.A485V

c.1454C>T

1 paper

NM_024083.4

p.G530W

c.1588G>T

1 paper

NM_024083.4

p.A532T

c.1594G>A

1 paper

NM_024083.4

p.G469D

c.1406G>A

1 paper

NM_024083.4

p.G540D

c.1619G>A

1 paper

NM_024083.4

p.A550Splc

c.1648+2T>C