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.R391W

c.1171C>T

Surrounding Variants

1 paper

NM_001101648.2

p.S392G

c.1174A>G

2 papers

NM_001101648.2

p.Q389P

c.1166A>C

1 paper

NM_001101648.2

p.N387S

c.1160A>G

6 papers

NM_001101648.2

p.A395V

c.1184C>T

1 paper

NM_001101648.2

p.S384L

c.1151C>T

6 papers

NM_001101648.2

p.D398G

c.1193A>G

7 papers

NM_001101648.2

p.G402S

c.1204G>A

1 paper

NM_001101648.2

p.T377M

c.1130C>T

11 papers

NM_001101648.2

p.R406*

c.1216C>T

1 paper

NM_001101648.2

p.R406R

c.1216C>A

2 papers

NM_001101648.2

p.R406Q

c.1217G>A

1 paper

NM_001101648.2

p.Q409R

c.1226A>G