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

5 papers

NM_001101648.2

p.R306C

c.916C>T

Surrounding Variants

1 paper

NM_001101648.2

p.V307L

c.919G>T

1 paper

NM_001101648.2

p.V307A

c.920T>C

1 paper

NM_001101648.2

p.P309insFs

c.927dupC

1 paper

NM_001101648.2

p.R311K

c.932G>A

2 papers

NM_001101648.2

p.I300T

c.899T>C

1 paper

NM_001101648.2

p.D312N

c.934G>A

1 paper

NM_001101648.2

p.M316V

c.946A>G

1 paper

NM_001101648.2

p.T323P

c.967A>C

1 paper

NM_001101648.2

p.L287L

c.861C>G

1 paper

NM_001101648.2

p.S326C

c.977C>G

1 paper

NM_001101648.2

p.P282L

c.845C>T

1 paper

NM_001101648.2

p.P282T

c.844C>A