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.A278V

c.833C>T

Surrounding Variants

1 paper

NM_000271.5

p.A278E

c.833C>A

1 paper

NM_000271.5

p.M277V

c.829A>G

1 paper

NM_000271.5

p.Y276*

c.828C>G

1 paper

NM_000271.5

p.Y276*

c.828C>A

5 papers

NM_000271.5

p.Y276H

c.826T>C

1 paper

NM_000271.5

p.T275delFs

c.825delG

2 papers

NM_000271.5

p.L280delFs

c.839delA

2 papers

NM_000271.5

p.L281F

c.841C>T

1 paper

NM_000271.5

p.L281P

c.842T>C

1 paper

NM_000271.5

p.V282L

c.844G>T

1 paper

NM_000271.5

p.V282L

c.844G>C

2 papers

NM_000271.5

p.V282fs

c.844_845fs