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

Selected Variant

1 paper

NM_001101648.2

p.P264S

c.790C>T

Surrounding Variants

1 paper

NM_001101648.2

p.R268delFs

c.802delG

8 papers

NM_001101648.2

p.L272L

c.816C>G

1 paper

NM_001101648.2

p.D273Y

c.817G>T

1 paper

NM_001101648.2

p.C254R

c.760T>C

1 paper

NM_001101648.2

p.A252V

c.755C>T

1 paper

NM_001101648.2

p.P282T

c.844C>A

1 paper

NM_001101648.2

p.P282L

c.845C>T

1 paper

NM_001101648.2

p.N244S

c.731A>G

1 paper

NM_001101648.2

p.L287L

c.861C>G

1 paper

NM_001101648.2

p.G239G

c.717G>T

1 paper

NM_001101648.2

p.E238K

c.712G>A

1 paper

NM_001101648.2

p.N237Y

c.709A>T