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.M268T

c.803T>C

Surrounding Variants

2 papers

NM_000271.5

p.A267V

c.800C>T

1 paper

NM_000271.5

p.A267G

c.800C>G

2 papers

NM_000271.5

p.A267D

c.800C>A

1 paper

NM_000271.5

p.Y269C

c.806A>G

1 paper

NM_000271.5

p.M268_Y269ins0

c.803_805dupTGT

1 paper

NM_000271.5

p.V270I

c.808G>A

1 paper

NM_000271.5

p.V270fs

c.808_809fs

1 paper

NM_000271.5

p.V270delFs

c.808delC

1 paper

NM_000271.5

p.D266G

c.797A>G

2 papers

NM_000271.5

p.I271V

c.811A>G

6 papers

NM_000271.5

p.M272R

c.815T>G

1 paper

NM_000271.5

p.G264V

c.791G>T