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

2 papers

NM_000271.5

p.S344delFs

c.1030delA

Surrounding Variants

4 papers

NM_000271.5

p.G343insFs

c.1029dupG

2 papers

NM_000271.5

p.S344fs

c.1030_1031fs

2 papers

NM_000271.5

p.S344fs

c.1030_1031fs

1 paper

NM_000271.5

p.F345C

c.1034T>G

4 papers

NM_000271.5

p.G343E

c.1028G>A

1 paper

NM_000271.5

p.G343R

c.1027G>C

1 paper

NM_000271.5

p.G343R

c.1027G>A

1 paper

NM_000271.5

p.F345delFs

c.1033_1034delAA

2 papers

NM_000271.5

p.C346S

c.1036T>A

1 paper

NM_000271.5

p.W342*

c.1026G>A

1 paper

NM_000271.5

p.W342*

c.1025G>A

1 paper

NM_000271.5

p.C346W

c.1038C>G