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

5 papers

NM_000271.5

p.C468G

c.1402T>G

Surrounding Variants

1 paper

NM_000271.5

p.L469V

c.1405T>G

1 paper

NM_000271.5

p.L469S

c.1406T>C

6 papers

NM_000271.5

p.A470P

c.1408G>C

1 paper

NM_000271.5

p.A470T

c.1408G>A

1 paper

NM_000271.5

p.Q465E

c.1393C>G

4 papers

NM_000271.5

p.P471L

c.1412C>T

1 paper

NM_000271.5

p.L464insFs

c.1390_1391insA

15 papers

NM_000271.5

p.L472P

c.1415T>C

5 papers

NM_000271.5

p.L472H

c.1415T>A

8 papers

NM_000271.5

p.S473P

c.1417T>C

1 paper

NM_000271.5

p.V462L

c.1384G>T

1 paper

NM_000271.5

p.V462L

c.1384G>C