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

44 papers

NM_000271.5

p.N222S

c.665A>G

Surrounding Variants

2 papers

NM_000271.5

p.N222T

c.665A>C

1 paper

NM_000271.5

p.N222D

c.664A>G

1 paper

NM_000271.5

p.N221S

c.662A>G

1 paper

NM_000271.5

p.M220I

c.660G>A

1 paper

NM_000271.5

p.P219S

c.655C>T

1 paper

NM_000271.5

p.G226S

c.676G>A

1 paper

NM_000271.5

p.E218K

c.652G>A

1 paper

NM_000271.5

p.C227S

c.679T>A

1 paper

NM_000271.5

p.C227S

c.680G>C

2 papers

NM_000271.5

p.C227W

c.681T>G

1 paper

NM_000271.5

p.C227*

c.681T>A

1 paper

NM_000271.5

p.M217L

c.649A>T