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

2 papers

NM_012235.4

p.R750R

c.2250C>T

Surrounding Variants

1 paper

NM_012235.4

p.R747fs

c.2239_2240fs

1 paper

NM_012235.4

p.P754P

c.2262C>T

1 paper

NM_012235.4

p.D757N

c.2269G>A

1 paper

NM_012235.4

p.P763R

c.2288C>G

1 paper

NM_012235.4

p.G774D

c.2321G>A

1 paper

NM_012235.4

p.H775P

c.2324A>C

1 paper

NM_012235.4

p.V721I

c.2161G>A

1 paper

NM_012235.4

p.G786S

c.2356G>A

1 paper

NM_012235.4

p.G796S

c.2386G>A

7 papers

NM_012235.4

p.V798I

c.2392G>A

1 paper

NM_012235.4

p.R811C

c.2431C>T

1 paper

NM_012235.4

p.V706A

c.2117T>C