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.F212delFs

c.636delA

Surrounding Variants

1 paper

NM_000271.5

p.D211fs

c.631_632fs

2 papers

NM_000271.5

p.D211Y

c.631G>T

1 paper

NM_000271.5

p.H215Y

c.643C>T

59 papers

NM_000271.5

p.H215R

c.644A>G

1 paper

NM_000271.5

p.G216R

c.646G>C

2 papers

NM_000271.5

p.G216R

c.646G>A

1 paper

NM_000271.5

p.G216A

c.647G>C

1 paper

NM_000271.5

p.M217L

c.649A>T

1 paper

NM_000271.5

p.M217L

c.649A>C

1 paper

NM_000271.5

p.E218K

c.652G>A

1 paper

NM_000271.5

p.P219S

c.655C>T

1 paper

NM_000271.5

p.M220I

c.660G>A