Varaico: Literature-Extracted Genetic Variants

SCAP

221 papers

RefSeq Summary

This gene encodes a protein with a sterol sensing domain (SSD) and seven WD domains. In the presence of cholesterol, this protein binds to sterol regulatory element binding proteins (SREBPs) and media...

Pfam Domains

SCAP_Naa 81–277UCSCSCAP N-terminal

Sterol-sensingaa 308–457UCSCSterol-sensing domain of SREBP cleavage-activation

Beta-prop_SCAPaa 770–1270UCSCSCAP Beta-propeller

Gene Aliases

HGNC Name

SREBF chaperone

HGNC Alias Symbol

KIAA0199

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012235.4

p.L315P

c.944T>C

Surrounding Variants

1 paper

NM_012235.4

p.D307N

c.919G>A

1 paper

NM_012235.4

p.K305R

c.914A>G

1 paper

NM_012235.4

p.S326A

c.976T>G

1 paper

NM_012235.4

p.S330A

c.988T>G

1 paper

NM_012235.4

p.G332E

c.995G>A

1 paper

NM_012235.4

p.Y298F

c.893A>T

21 papers

NM_012235.4

p.Y298C

c.893A>G

1 paper

NM_012235.4

p.I280delFs

c.840delA

1 paper

NM_012235.4

p.I280fs

c.838_839fs

1 paper

NM_012235.4

p.V274A

c.821T>C

1 paper

NM_012235.4

p.R267Q

c.800G>A

1 paper

NM_012235.4

p.R252C

c.754C>T