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

13 papers

NM_000271.5

p.E1189G

c.3566A>G

Surrounding Variants

2 papers

NM_000271.5

p.E1189insFs

c.3565_3566insG

1 paper

NM_000271.5

p.E1189fs

c.3565_3566fs

2 papers

NM_000271.5

p.A1190S

c.3568G>T

2 papers

NM_000271.5

p.E1188fs

c.3562_3563fs

1 paper

NM_000271.5

p.A1190V

c.3569C>T

1 paper

NM_000271.5

p.A1190G

c.3569C>G

3 papers

NM_000271.5

p.E1188delFs

c.3562delC

6 papers

NM_000271.5

p.E1188*

c.3562G>T

1 paper

NM_000271.5

p.E1188Q

c.3562G>C

1 paper

NM_000271.5

p.E1188K

c.3562G>A

1 paper

NM_000271.5

p.E1188fs

c.3562_3563fs

2 papers

NM_000271.5

p.A1187A

c.3561G>T