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.D72A

c.215A>C

Surrounding Variants

1 paper

NM_012235.4

p.K74*

c.220A>T

1 paper

NM_012235.4

p.T79T

c.237T>C

1 paper

NM_012235.4

p.D63H

c.187G>C

1 paper

NM_012235.4

p.Y42F

c.125A>T

1 paper

NM_012235.4

p.Y42_P43ins5

c.124_128ins15

1 paper

NM_012235.4

p.W84_Y85Splc

c.253-342G>T

1 paper

NM_012235.4

p.P89L

c.266C>T

1 paper

NM_012235.4

p.Y92C

c.275A>G

1 paper

NM_012235.4

p.R116C

c.346C>T

1 paper

NM_012235.4

p.L119L

c.357G>A

4 papers

NM_012235.4

p.R121W

c.361C>T

1 paper

NM_012235.4

p.R121_A122delFs

c.363_364delCC