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

1–12 of 172 variants

26 papers

NM_012235.4

p.D443N

c.1327G>A

21 papers

NM_012235.4

p.Y298C

c.893A>G

9 papers

NM_012235.4

p.D428A

c.1283A>C

7 papers

NM_012235.4

p.V798I

c.2392G>A

4 papers

NM_012235.4

p.R121W

c.361C>T

3 papers

NM_012235.4

p.V355A

c.1064T>C

3 papers

NM_012235.4

p.G956V

c.2867G>T

2 papers

NM_012235.4

p.C41Splc

c.122+5G>A

2 papers

NM_012235.4

p.I348F

c.1042A>T

2 papers

NM_012235.4

p.D451A

c.1352A>C

2 papers

NM_012235.4

p.R505C

c.1513C>T

2 papers

NM_012235.4

p.Y640S

c.1919A>C