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.V971Splc

c.2911+1G>A

Surrounding Variants

4 papers

NM_000271.5

p.V971L

c.2911G>C

3 papers

NM_000271.5

p.S970fs

c.2908_2909fs

1 paper

NM_000271.5

p.V971Splc

c.2911+4C>T

1 paper

NM_000271.5

p.S970L

c.2909C>T

2 papers

NM_000271.5

p.S970insFs

c.2909_2910insT

2 papers

NM_000271.5

p.S970insFs

c.2908_2909insTT

1 paper

NM_000271.5

p.S970fs

c.2908_2909fs

15 papers

NM_000271.5

p.N968S

c.2903A>G

2 papers

NM_000271.5

p.N961_F966del0

c.2883_2897del15

1 paper

NM_000271.5

p.F966S

c.2897T>C

1 paper

NM_000271.5

p.N961_F966delins

c.2882_2897delinsG

1 paper

NM_000271.5

p.N961_F966Fs

c.2882_2897delinsGCFs