Varaico: Literature-Extracted Genetic Variants

NPC1

1,140 papers

RefSeq Summary

This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domai...

Pfam Domains

NPC1_Naa 22–267UCSCNiemann-Pick C1 N terminus

NPC1_MLDaa 392–607UCSCNPC1, middle luminal domain

Sterol-sensingaa 649–803UCSCSterol-sensing domain of SREBP cleavage-activation

Gene Aliases

HGNC Name

NPC intracellular cholesterol transporter 1

HGNC Alias Symbol

SLC65A1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000271.5

p.Y932S

c.2795A>C

Surrounding Variants

2 papers

NM_000271.5

p.Y932*

c.2796T>G

2 papers

NM_000271.5

p.Y932*

c.2796T>A

1 paper

NM_000271.5

p.Y932Splc

c.2796-4C>T

17 papers

NM_000271.5

p.R934*

c.2800C>T

3 papers

NM_000271.5

p.R934L

c.2801G>T

20 papers

NM_000271.5

p.R934Q

c.2801G>A

2 papers

NM_000271.5

p.G936D

c.2807G>A

1 paper

NM_000271.5

p.A938T

c.2812G>A

1 paper

NM_000271.5

p.P939A

c.2815C>G

1 paper

NM_000271.5

p.P939L

c.2816C>T

57 papers

NM_000271.5

p.S940L

c.2819C>T

1 paper

NM_000271.5

p.S940*

c.2819C>A