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.P254delFs

c.762delT

Surrounding Variants

3 papers

NM_000271.5

p.P255S

c.763C>T

1 paper

NM_000271.5

p.P255R

c.764C>G

1 paper

NM_000271.5

p.P254fs

c.760_761fs

1 paper

NM_000271.5

p.P255fs

c.763_764fs

2 papers

NM_000271.5

p.P254R

c.761C>G

1 paper

NM_000271.5

p.Q252_P254ins1

c.755_760dup6

2 papers

NM_000271.5

p.P254Q

c.761C>A

1 paper

NM_000271.5

p.P256S

c.766C>T

2 papers

NM_000271.5

p.P257S

c.769C>T

2 papers

NM_000271.5

p.Q252fs

c.754_755fs

1 paper

NM_000271.5

p.K250_Q252delFs

c.749_755del7

1 paper

NM_000271.5

p.P257L

c.770C>T