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.F284_G285delFs

c.852_855del4

Surrounding Variants

1 paper

NM_000271.5

p.A286E

c.857C>A

1 paper

NM_000271.5

p.F287L

c.859T>C

1 paper

NM_000271.5

p.F284insFs

c.852dupT

13 papers

NM_000271.5

p.F284delFs

c.852delA

3 papers

NM_000271.5

p.F284fs

c.850_851fs

1 paper

NM_000271.5

p.F287L

c.861T>G

1 paper

NM_000271.5

p.F287L

c.861T>A

2 papers

NM_000271.5

p.F288L

c.862T>C

5 papers

NM_000271.5

p.F284fs

c.850_851fs

1 paper

NM_000271.5

p.F288fs

c.862_863fs

3 papers

NM_000271.5

p.F283fs

c.847_848fs

1 paper

NM_000271.5

p.F283insFs

c.848_849insGG