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.R404G

c.1210C>G

Surrounding Variants

1 paper

NM_000271.5

p.R404fs

c.1210_1211fs

13 papers

NM_000271.5

p.R404W

c.1210C>T

6 papers

NM_000271.5

p.R404P

c.1211G>C

43 papers

NM_000271.5

p.R404Q

c.1211G>A

1 paper

NM_000271.5

p.R404delFs

c.1210delG

2 papers

NM_000271.5

p.F403S

c.1208T>C

1 paper

NM_000271.5

p.T405A

c.1213A>G

1 paper

NM_000271.5

p.T405M

c.1214C>T

2 papers

NM_000271.5

p.F402S

c.1205T>C

1 paper

NM_000271.5

p.F402V

c.1204T>G

1 paper

NM_000271.5

p.E406G

c.1217A>G

4 papers

NM_000271.5

p.P401L

c.1202C>T