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

4 papers

NM_000271.5

p.N478T

c.1433A>C

Surrounding Variants

1 paper

NM_000271.5

p.N478S

c.1433A>G

8 papers

NM_000271.5

p.C479Y

c.1436G>A

3 papers

NM_000271.5

p.T477M

c.1430C>T

1 paper

NM_000271.5

p.T477K

c.1430C>A

1 paper

NM_000271.5

p.T480A

c.1438A>G

1 paper

NM_000271.5

p.T480I

c.1439C>T

1 paper

NM_000271.5

p.T480T

c.1440C>A

2 papers

NM_000271.5

p.Y475C

c.1424A>G

1 paper

NM_000271.5

p.C479_I481del0

c.1437_1442del6

1 paper

NM_000271.5

p.L482L

c.1444T>C

44 papers

NM_000271.5

p.P474L

c.1421C>T

1 paper

NM_000271.5

p.L482F

c.1446G>T