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.V439G

c.1316T>G

Surrounding Variants

1 paper

NM_012235.4

p.L440P

c.1319T>C

1 paper

NM_012235.4

p.S441Y

c.1322C>A

26 papers

NM_012235.4

p.D443N

c.1327G>A

1 paper

NM_012235.4

p.D443E

c.1329C>G

1 paper

NM_012235.4

p.D443E

c.1329C>A

1 paper

NM_012235.4

p.R446Q

c.1337G>A

1 paper

NM_012235.4

p.M447insFs

c.1339_1340insG

1 paper

NM_012235.4

p.L431R

c.1292T>G

1 paper

NM_012235.4

p.E448K

c.1342G>A

1 paper

NM_012235.4

p.D428E

c.1284C>G

1 paper

NM_012235.4

p.D428E

c.1284C>A

9 papers

NM_012235.4

p.D428A

c.1283A>C