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.N486H

c.1456A>C

Surrounding Variants

1 paper

NM_000271.5

p.V484_L485insFs

c.1452_1453insC

1 paper

NM_000271.5

p.V484fs

c.1450_1451fs

1 paper

NM_000271.5

p.V484delFs

c.1451delA

1 paper

NM_000271.5

p.V484A

c.1451T>C

1 paper

NM_000271.5

p.V484L

c.1450G>T

1 paper

NM_000271.5

p.V484L

c.1450G>C

1 paper

NM_000271.5

p.L482F

c.1446G>T

1 paper

NM_000271.5

p.L482F

c.1446G>C

1 paper

NM_000271.5

p.L482L

c.1444T>C

1 paper

NM_000271.5

p.C479_I481del0

c.1437_1442del6

1 paper

NM_000271.5

p.N490S

c.1469A>G

1 paper

NM_000271.5

p.N490T

c.1469A>C