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.G357A

c.1070G>C

Surrounding Variants

1 paper

NM_012235.4

p.E359Q

c.1075G>C

3 papers

NM_012235.4

p.V355A

c.1064T>C

1 paper

NM_012235.4

p.E359A

c.1076A>C

1 paper

NM_012235.4

p.V353G

c.1058T>G

1 paper

NM_012235.4

p.V363_L364del2

c.1087_1091del6

2 papers

NM_012235.4

p.I348F

c.1042A>T

1 paper

NM_012235.4

p.S367F

c.1100C>T

1 paper

NM_012235.4

p.E347A

c.1040A>C

1 paper

NM_012235.4

p.G346Splc

c.1038-1G>T

1 paper

NM_012235.4

p.G346Splc

c.1038-1G>C

1 paper

NM_012235.4

p.T371S

c.1112C>G

1 paper

NM_012235.4

p.D374Y

c.1120G>T