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.K392E

c.1174A>G

Surrounding Variants

3 papers

NM_000271.5

p.E391G

c.1172A>G

1 paper

NM_000271.5

p.E391*

c.1171G>T

1 paper

NM_000271.5

p.K392insFs

c.1176dupA

4 papers

NM_000271.5

p.E391K

c.1171G>A

1 paper

NM_000271.5

p.L390R

c.1169T>G

14 papers

NM_000271.5

p.Y394H

c.1180T>C

8 papers

NM_000271.5

p.R389L

c.1166G>T

3 papers

NM_000271.5

p.R389H

c.1166G>A

1 paper

NM_000271.5

p.Y394_F395insFs

c.1182_1183insT

1 paper

NM_000271.5

p.Y394insFs

c.1180_1181dupTA

11 papers

NM_000271.5

p.R389C

c.1165C>T

1 paper

NM_000271.5

p.F395fs

c.1183_1184fs