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.Y25delFs

c.75delA

Surrounding Variants

1 paper

NM_012235.4

p.T33A

c.97A>G

1 paper

NM_012235.4

p.G34E

c.101G>A

1 paper

NM_012235.4

p.F15F

c.45C>T

1 paper

NM_012235.4

p.A14_F15insFs

c.42_43ins5

1 paper

NM_012235.4

p.R13R

c.39G>C

1 paper

NM_012235.4

p.S12S

c.36T>C

1 paper

NM_012235.4

p.E9delFs

c.27delC

2 papers

NM_012235.4

p.C41Splc

c.122+5G>A

1 paper

NM_012235.4

p.T4I

c.11C>T

1 paper

NM_012235.4

p.T2delFs

c.4delT

1 paper

NM_012235.4

p.M1_T2insFs

c.3_4insT

1 paper

NM_012235.4

p.Y42_P43ins5

c.124_128ins15