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

3 papers

NM_000271.5

p.I450V

c.1348A>G

Surrounding Variants

2 papers

NM_000271.5

p.A449V

c.1346C>T

1 paper

NM_000271.5

p.I450M

c.1350C>G

1 paper

NM_000271.5

p.I448_A449insFs

c.1344_1345insA

18 papers

NM_000271.5

p.E451K

c.1351G>A

2 papers

NM_000271.5

p.N452fs

c.1354_1355fs

3 papers

NM_000271.5

p.Q447*

c.1339C>T

1 paper

NM_000271.5

p.Q447K

c.1339C>A

2 papers

NM_000271.5

p.E451_N452del2

c.1351_1355del6

1 paper

NM_000271.5

p.Q447fs

c.1339_1340fs

1 paper

NM_000271.5

p.T454I

c.1361C>T

18 papers

NM_000271.5

p.L444P

c.1331T>C

2 papers

NM_000271.5

p.S456F

c.1367C>T