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

9 papers

NM_000271.5

p.L380F

c.1138C>T

Surrounding Variants

1 paper

NM_000271.5

p.D379H

c.1135G>C

1 paper

NM_000271.5

p.W381L

c.1142G>T

3 papers

NM_000271.5

p.W381*

c.1142G>A

18 papers

NM_000271.5

p.V378A

c.1133T>C

5 papers

NM_000271.5

p.W381C

c.1143G>T

5 papers

NM_000271.5

p.W381C

c.1143G>C

3 papers

NM_000271.5

p.W381*

c.1143G>A

1 paper

NM_000271.5

p.S382A

c.1144T>G

1 paper

NM_000271.5

p.V378F

c.1132G>T

2 papers

NM_000271.5

p.S382*

c.1145C>G

2 papers

NM_000271.5

p.S382*

c.1145C>A

2 papers

NM_000271.5

p.P377fs

c.1129_1130fs