Varaico: Literature-Extracted Genetic Variants

NPC1L1

204 papers

RefSeq Summary

The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL mot...

Pfam Domains

NPC1_Naa 30–283UCSCNiemann-Pick C1 N terminus

NPC1_MLDaa 394–619UCSCNPC1, middle luminal domain

Sterol-sensingaa 661–815UCSCSterol-sensing domain of SREBP cleavage-activation

Gene Aliases

HGNC Name

NPC1 like intracellular cholesterol transporter 1

HGNC Alias Symbol

SLC65A2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 303 variants

11 papers

NM_001101648.2

p.R406*

c.1216C>T

10 papers

NM_001101648.2

p.I647N

c.1940T>A

9 papers

NM_001101648.2

p.R417W

c.1249C>T

8 papers

NM_001101648.2

p.L272L

c.816C>G

8 papers

NM_001101648.2

p.T499M

c.1496C>T

8 papers

NM_001101648.2

p.S881L

c.2642C>T

7 papers

NM_001101648.2

p.T61M

c.182C>T

7 papers

NM_001101648.2

p.L110F

c.328C>T

7 papers

NM_001101648.2

p.N132S

c.395A>G

7 papers

NM_001101648.2

p.G402S

c.1204G>A

7 papers

NM_001101648.2

p.G434R

c.1300G>C

7 papers

NM_001101648.2

p.G434R

c.1300G>A