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

6 papers

NM_000271.5

p.F1167L

c.3499T>C

Surrounding Variants

1 paper

NM_000271.5

p.F1167V

c.3499T>G

6 papers

NM_000271.5

p.F1167C

c.3500T>G

6 papers

NM_000271.5

p.F1167L

c.3501C>G

6 papers

NM_000271.5

p.F1167L

c.3501C>A

1 paper

NM_000271.5

p.E1166Q

c.3496G>C

2 papers

NM_000271.5

p.E1166K

c.3496G>A

12 papers

NM_000271.5

p.C1168Y

c.3503G>A

2 papers

NM_000271.5

p.V1165L

c.3493G>T

2 papers

NM_000271.5

p.V1165L

c.3493G>C

34 papers

NM_000271.5

p.V1165M

c.3493G>A

2 papers

NM_000271.5

p.S1169I

c.3506G>T

1 paper

NM_000271.5

p.S1164P

c.3490T>C