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.H510insFs

c.1529dupA

Surrounding Variants

1 paper

NM_000271.5

p.H510Q

c.1530C>G

1 paper

NM_000271.5

p.H510Q

c.1530C>A

13 papers

NM_000271.5

p.H510P

c.1529A>C

7 papers

NM_000271.5

p.T511M

c.1532C>T

3 papers

NM_000271.5

p.H512Y

c.1534C>T

2 papers

NM_000271.5

p.Y509C

c.1526A>G

11 papers

NM_000271.5

p.Y509S

c.1526A>C

9 papers

NM_000271.5

p.H512R

c.1535A>G

2 papers

NM_000271.5

p.D508N

c.1522G>A

1 paper

NM_000271.5

p.Y506H

c.1516T>C

3 papers

NM_000271.5

p.V505G

c.1514T>G

1 paper

NM_000271.5

p.C516F

c.1547G>T