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.I962S

c.2885T>G

Surrounding Variants

1 paper

NM_000271.5

p.I962V

c.2884A>G

1 paper

NM_000271.5

p.T963S

c.2887A>T

1 paper

NM_000271.5

p.T963S

c.2888C>G

12 papers

NM_000271.5

p.N961S

c.2882A>G

1 paper

NM_000271.5

p.N961T

c.2882A>C

1 paper

NM_000271.5

p.N961D

c.2881A>G

2 papers

NM_000271.5

p.Q965*

c.2893C>T

6 papers

NM_000271.5

p.V959E

c.2876T>A

1 paper

NM_000271.5

p.Q965H

c.2895G>C

1 paper

NM_000271.5

p.I962_Q965delFs

c.2886_2895del10

1 paper

NM_000271.5

p.F966S

c.2897T>C

1 paper

NM_000271.5

p.N961_F966delins

c.2882_2897delinsG