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.A321fs

c.961_962fs

Surrounding Variants

2 papers

NM_000271.5

p.E320E

c.960G>A

2 papers

NM_000271.5

p.A321V

c.962C>T

1 paper

NM_000271.5

p.E320_A321insFs

c.960_961dupGG

1 paper

NM_000271.5

p.G319Splc

c.956-1G>T

1 paper

NM_000271.5

p.C324Y

c.971G>A

2 papers

NM_000271.5

p.D325insFs

c.974_975insGA

1 paper

NM_000271.5

p.D325insFs

c.973_974dupGA

2 papers

NM_000271.5

p.V327I

c.979G>A

1 paper

NM_000271.5

p.S328G

c.982A>G

1 paper

NM_000271.5

p.A329T

c.985G>A

2 papers

NM_000271.5

p.G333D

c.998G>A

2 papers

NM_000271.5

p.C334S

c.1000T>A