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.E166*

c.496G>T

Surrounding Variants

1 paper

NM_012235.4

p.L171L

c.511C>T

1 paper

NM_012235.4

p.F177V

c.529T>G

1 paper

NM_012235.4

p.W178*

c.533G>A

1 paper

NM_012235.4

p.W178*

c.534G>A

1 paper

NM_012235.4

p.L153L

c.457C>T

1 paper

NM_012235.4

p.Q149*

c.445C>T

1 paper

NM_012235.4

p.E145fs

c.433_434fs

1 paper

NM_012235.4

p.S142R

c.426C>G

1 paper

NM_012235.4

p.D190V

c.569A>T

1 paper

NM_012235.4

p.I195T

c.584T>C

1 paper

NM_012235.4

p.E199K

c.595G>A

1 paper

NM_012235.4

p.Y220C

c.659A>G