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.P984L

c.2951C>T

Surrounding Variants

1 paper

NM_000271.5

p.E985D

c.2955A>T

1 paper

NM_000271.5

p.E985D

c.2955A>C

9 papers

NM_000271.5

p.G986S

c.2956G>A

2 papers

NM_000271.5

p.K987Q

c.2959A>C

1 paper

NM_000271.5

p.P981L

c.2942C>T

4 papers

NM_000271.5

p.R978H

c.2933G>A

2 papers

NM_000271.5

p.P990R

c.2969C>G

38 papers

NM_000271.5

p.R978C

c.2932C>T

10 papers

NM_000271.5

p.Q991fs

c.2971_2972fs

1 paper

NM_000271.5

p.Q991H

c.2973G>T

5 papers

NM_000271.5

p.Q991fs

c.2971_2972fs

1 paper

NM_000271.5

p.Q991_G992insFs

c.2973_2974insA