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.V231delFs

c.692_693delCA

Surrounding Variants

3 papers

NM_000271.5

p.S230_V231del0

c.688_693del6

2 papers

NM_000271.5

p.V231fs

c.691_692fs

2 papers

NM_000271.5

p.D232G

c.695A>G

4 papers

NM_000271.5

p.V231G

c.692T>G

1 paper

NM_000271.5

p.V231A

c.692T>C

1 paper

NM_000271.5

p.E229K

c.685G>A

1 paper

NM_000271.5

p.T235I

c.704C>T

1 paper

NM_000271.5

p.A236T

c.706G>A

2 papers

NM_000271.5

p.C227W

c.681T>G

1 paper

NM_000271.5

p.C227*

c.681T>A

1 paper

NM_000271.5

p.C227S

c.680G>C

1 paper

NM_000271.5

p.C227S

c.679T>A