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.M1179V

c.3535A>G

Surrounding Variants

2 papers

NM_000271.5

p.S1178G

c.3532A>G

1 paper

NM_000271.5

p.K1180R

c.3539A>G

1 paper

NM_000271.5

p.G1181S

c.3541G>A

3 papers

NM_000271.5

p.T1176M

c.3527C>T

1 paper

NM_000271.5

p.S1182N

c.3545G>A

1 paper

NM_000271.5

p.R1183C

c.3547C>T

3 papers

NM_000271.5

p.R1183H

c.3548G>A

7 papers

NM_000271.5

p.A1174V

c.3521C>T

2 papers

NM_000271.5

p.V1184M

c.3550G>A

1 paper

NM_000271.5

p.E1185K

c.3553G>A

2 papers

NM_000271.5

p.R1173G

c.3517A>G

5 papers

NM_000271.5

p.R1186C

c.3556C>T