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.G367S

c.1099G>A

Surrounding Variants

1 paper

NM_000271.5

p.S366*

c.1097C>G

1 paper

NM_000271.5

p.S366*

c.1097C>A

1 paper

NM_000271.5

p.S366A

c.1096T>G

2 papers

NM_000271.5

p.S366T

c.1096T>A

1 paper

NM_000271.5

p.L368P

c.1103T>C

3 papers

NM_000271.5

p.S365L

c.1094C>T

1 paper

NM_000271.5

p.T362_S365delFs

c.1084_1093del10

2 papers

NM_000271.5

p.S365P

c.1093T>C

1 paper

NM_000271.5

p.A363_C364del2

c.1087_1091del6

1 paper

NM_000271.5

p.A363V

c.1088C>T

2 papers

NM_000271.5

p.V371F

c.1111G>T

1 paper

NM_000271.5

p.T362fs

c.1084_1085fs