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.P430delFs

c.1290delG

Surrounding Variants

1 paper

NM_000271.5

p.F431fs

c.1291_1292fs

1 paper

NM_000271.5

p.P430insFs

c.1288_1289insTA

1 paper

NM_000271.5

p.D428_V429del2

c.1282_1286del6

1 paper

NM_000271.5

p.G432fs

c.1294_1295fs

2 papers

NM_000271.5

p.V429G

c.1286T>G

1 paper

NM_000271.5

p.G432delFs

c.1295delC

14 papers

NM_000271.5

p.P433L

c.1298C>T

1 paper

NM_000271.5

p.D428A

c.1283A>C

6 papers

NM_000271.5

p.P434S

c.1300C>T

12 papers

NM_000271.5

p.P434L

c.1301C>T

1 paper

NM_000271.5

p.P434R

c.1301C>G

2 papers

NM_000271.5

p.A427T

c.1279G>A