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.V525I

c.1573G>A

Surrounding Variants

1 paper

NM_012235.4

p.T548T

c.1644G>A

1 paper

NM_012235.4

p.G556E

c.1667G>A

1 paper

NM_012235.4

p.D574H

c.1720G>C

1 paper

NM_012235.4

p.G595A

c.1784G>C

2 papers

NM_012235.4

p.Y640S

c.1919A>C

1 paper

NM_012235.4

p.I642M

c.1926C>G

1 paper

NM_012235.4

p.L651fs

c.1951_1952fs

1 paper

NM_012235.4

p.R518H

c.1553G>A

1 paper

NM_012235.4

p.V654V

c.1962C>T

1 paper

NM_012235.4

p.A516T

c.1546G>A

1 paper

NM_012235.4

p.E665G

c.1994A>G

2 papers

NM_012235.4

p.R505C

c.1513C>T