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.C240R

c.718T>C

Surrounding Variants

1 paper

NM_000271.5

p.S239N

c.716G>A

1 paper

NM_000271.5

p.Q241*

c.721C>T

3 papers

NM_000271.5

p.C238R

c.712T>C

14 papers

NM_000271.5

p.D242H

c.724G>C

7 papers

NM_000271.5

p.D242N

c.724G>A

4 papers

NM_000271.5

p.P237L

c.710C>T

1 paper

NM_000271.5

p.P237Q

c.710C>A

1 paper

NM_000271.5

p.C243R

c.727T>C

80 papers

NM_000271.5

p.P237S

c.709C>T

1 paper

NM_000271.5

p.C243Y

c.728G>A

1 paper

NM_000271.5

p.C243_S244insFs

c.729_730insTT

1 paper

NM_000271.5

p.S244T

c.730T>A