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.R997S

c.2991A>C

Surrounding Variants

1 paper

NM_000271.5

p.R997S

c.2991A>T

6 papers

NM_000271.5

p.M996R

c.2987T>G

1 paper

NM_000271.5

p.M996L

c.2986A>T

1 paper

NM_000271.5

p.M996L

c.2986A>C

6 papers

NM_000271.5

p.F995L

c.2985C>G

5 papers

NM_000271.5

p.F995L

c.2985C>A

5 papers

NM_000271.5

p.F995L

c.2983T>C

2 papers

NM_000271.5

p.D994fs

c.2980_2981fs

7 papers

NM_000271.5

p.M1001V

c.3001A>G

3 papers

NM_000271.5

p.M1001T

c.3002T>C

6 papers

NM_000271.5

p.G993insFs

c.2979dupA

2 papers

NM_000271.5

p.D994fs

c.2980_2981fs