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.R905Q

c.2714G>A

Surrounding Variants

1 paper

NM_012235.4

p.C901S

c.2702G>C

1 paper

NM_012235.4

p.C901S

c.2701T>A

1 paper

NM_012235.4

p.Q921R

c.2762A>G

1 paper

NM_012235.4

p.E923K

c.2767G>A

1 paper

NM_012235.4

p.A883E

c.2648C>A

1 paper

NM_012235.4

p.S882T

c.2644T>A

1 paper

NM_012235.4

p.D872A

c.2615A>C

1 paper

NM_012235.4

p.P940L

c.2819C>T

1 paper

NM_012235.4

p.D948Y

c.2842G>T

2 papers

NM_012235.4

p.D948N

c.2842G>A

1 paper

NM_012235.4

p.R859Q

c.2576G>A

1 paper

NM_012235.4

p.R857H

c.2570G>A