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.Q953R

c.2858A>G

Surrounding Variants

1 paper

NM_000271.5

p.Q953L

c.2858A>T

64 papers

NM_000271.5

p.S954L

c.2861C>T

1 paper

NM_000271.5

p.S954_S955del1

c.2862_2864delGAC

1 paper

NM_000271.5

p.K951E

c.2851A>G

1 paper

NM_000271.5

p.C956S

c.2866T>A

9 papers

NM_000271.5

p.V950G

c.2849T>G

1 paper

NM_000271.5

p.V950A

c.2849T>C

1 paper

NM_000271.5

p.C956S

c.2867G>C

7 papers

NM_000271.5

p.C956Y

c.2867G>A

1 paper

NM_000271.5

p.S955del1

c.2863_2864delAGA

25 papers

NM_000271.5

p.V950M

c.2848G>A

1 paper

NM_000271.5

p.C957S

c.2869T>A