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.D451A

c.1352A>C

Surrounding Variants

1 paper

NM_012235.4

p.D451N

c.1351G>A

1 paper

NM_012235.4

p.K454R

c.1361A>G

1 paper

NM_012235.4

p.K466R

c.1397A>G

1 paper

NM_012235.4

p.V468A

c.1403T>C

1 paper

NM_012235.4

p.G469R

c.1405G>C

1 paper

NM_012235.4

p.G469R

c.1405G>A

1 paper

NM_012235.4

p.T472M

c.1415C>T

1 paper

NM_012235.4

p.R476Q

c.1427G>A

2 papers

NM_012235.4

p.R505C

c.1513C>T

1 paper

NM_012235.4

p.E448K

c.1342G>A

1 paper

NM_012235.4

p.M447insFs

c.1339_1340insG

1 paper

NM_012235.4

p.R446Q

c.1337G>A