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.I850M

c.2550C>G

Surrounding Variants

2 papers

NM_000271.5

p.A851T

c.2551G>A

7 papers

NM_000271.5

p.S849I

c.2546G>T

1 paper

NM_000271.5

p.V852F

c.2554G>T

1 paper

NM_000271.5

p.S847P

c.2539T>C

1 paper

NM_000271.5

p.L846delFs

c.2536_2537delAG

1 paper

NM_000271.5

p.L846P

c.2537T>C

1 paper

NM_000271.5

p.L846fs

c.2536_2537fs

1 paper

NM_000271.5

p.L846V

c.2536C>G

1 paper

NM_000271.5

p.V845fs

c.2533_2534fs

1 paper

NM_000271.5

p.V845delFs

c.2533delC

2 papers

NM_000271.5

p.V856A

c.2567T>C

2 papers

NM_000271.5

p.V845fs

c.2533_2534fs