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.S865A

c.2593T>G

Surrounding Variants

14 papers

NM_000271.5

p.S865L

c.2594C>T

1 paper

NM_000271.5

p.L864P

c.2591T>C

1 paper

NM_000271.5

p.L864F

c.2590C>T

1 paper

NM_000271.5

p.M866V

c.2596A>G

3 papers

NM_000271.5

p.M866T

c.2597T>C

1 paper

NM_000271.5

p.M866I

c.2598G>T

1 paper

NM_000271.5

p.M866_P867insFs

c.2598_2599insT

1 paper

NM_000271.5

p.M866I

c.2598G>C

1 paper

NM_000271.5

p.M866I

c.2598G>A

4 papers

NM_000271.5

p.S863P

c.2587T>C

4 papers

NM_000271.5

p.P867S

c.2599C>T

6 papers

NM_000271.5

p.Q862L

c.2585A>T