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.F842S

c.2525T>C

Surrounding Variants

4 papers

NM_000271.5

p.F842L

c.2526T>G

4 papers

NM_000271.5

p.F842L

c.2524T>C

5 papers

NM_000271.5

p.F842L

c.2526T>A

2 papers

NM_000271.5

p.V843L

c.2527G>T

2 papers

NM_000271.5

p.V843L

c.2527G>C

1 paper

NM_000271.5

p.I841K

c.2522T>A

1 paper

NM_000271.5

p.I841V

c.2521A>G

2 papers

NM_000271.5

p.G844insFs

c.2531dupG

2 papers

NM_000271.5

p.V845fs

c.2533_2534fs

1 paper

NM_000271.5

p.V845F

c.2533G>T

1 paper

NM_000271.5

p.I839R

c.2516T>G

1 paper

NM_000271.5

p.V845delFs

c.2533delC