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.E89Q

c.265G>C

Surrounding Variants

1 paper

NM_024083.4

p.M91I

c.273G>A

1 paper

NM_024083.4

p.M91I

c.273G>C

1 paper

NM_024083.4

p.M91I

c.273G>T

1 paper

NM_024083.4

p.R83W

c.247C>T

1 paper

NM_024083.4

p.K75*

c.223A>T

1 paper

NM_024083.4

p.N69S

c.206A>G

1 paper

NM_024083.4

p.R66*

c.196A>T

1 paper

NM_024083.4

p.L63R

c.188T>G

1 paper

NM_024083.4

p.A95S

c.283G>T

1 paper

NM_024083.4

p.D100N

c.298G>A

1 paper

NM_024083.4

p.R41Q

c.122G>A

1 paper

NM_024083.4

p.V35V

c.105T>G