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

14 papers

NM_000271.5

p.Y394H

c.1180T>C

Surrounding Variants

1 paper

NM_000271.5

p.Y394_F395insFs

c.1182_1183insT

1 paper

NM_000271.5

p.Y394insFs

c.1180_1181dupTA

1 paper

NM_000271.5

p.K392insFs

c.1176dupA

1 paper

NM_000271.5

p.F395fs

c.1183_1184fs

1 paper

NM_000271.5

p.K392E

c.1174A>G

2 papers

NM_000271.5

p.D396V

c.1187A>T

2 papers

NM_000271.5

p.D396G

c.1187A>G

1 paper

NM_000271.5

p.D396E

c.1188C>G

1 paper

NM_000271.5

p.D396E

c.1188C>A

3 papers

NM_000271.5

p.E391G

c.1172A>G

1 paper

NM_000271.5

p.E391*

c.1171G>T

4 papers

NM_000271.5

p.E391K

c.1171G>A