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

11 papers

NM_024083.4

p.L252Q

c.755T>A

Surrounding Variants

1 paper

NM_024083.4

p.T259R

c.776C>G

1 paper

NM_024083.4

p.S264*

c.791C>A

1 paper

NM_024083.4

p.S264*

c.791C>G

1 paper

NM_024083.4

p.S264L

c.791C>T

1 paper

NM_024083.4

p.P237_A238insT

c.709_713ins3

1 paper

NM_024083.4

p.Q229L

c.686A>T

1 paper

NM_024083.4

p.P223S

c.667C>T

1 paper

NM_024083.4

p.S221L

c.662C>T

1 paper

NM_024083.4

p.S287L

c.860C>T

1 paper

NM_024083.4

p.E216D

c.648G>C

1 paper

NM_024083.4

p.E216D

c.648G>T

1 paper

NM_024083.4

p.Q297_R309del0

c.890_925del36