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.Q991_G992insFs

c.2973_2974insA

Surrounding Variants

1 paper

NM_000271.5

p.Q991H

c.2973G>T

5 papers

NM_000271.5

p.Q991fs

c.2971_2972fs

1 paper

NM_000271.5

p.Q991H

c.2973G>C

4 papers

NM_000271.5

p.Q991delFs

c.2972delT

73 papers

NM_000271.5

p.G992W

c.2974G>T

62 papers

NM_000271.5

p.G992R

c.2974G>C

58 papers

NM_000271.5

p.G992R

c.2974G>A

20 papers

NM_000271.5

p.Q991delFs

c.2972_2973delCT

9 papers

NM_000271.5

p.G992A

c.2975G>C

2 papers

NM_000271.5

p.G992E

c.2975G>A

10 papers

NM_000271.5

p.Q991fs

c.2971_2972fs

2 papers

NM_000271.5

p.P990R

c.2969C>G