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

9 papers

NM_000271.5

p.V1023G

c.3068T>G

Surrounding Variants

6 papers

NM_000271.5

p.V1023fs

c.3067_3068fs

1 paper

NM_000271.5

p.V1023F

c.3067G>T

3 papers

NM_000271.5

p.A1022_I1025Fs

c.3066_3073delinsTFs

1 paper

NM_000271.5

p.A1022_I1025delins

c.3066_3073delinsTC

2 papers

NM_000271.5

p.S1020T

c.3059G>C

1 paper

NM_000271.5

p.S1020N

c.3059G>A

12 papers

NM_000271.5

p.Y1019C

c.3056A>G

2 papers

NM_000271.5

p.A1018T

c.3052G>A

1 paper

NM_000271.5

p.G1028delFs

c.3083_3084delGC

1 paper

NM_000271.5

p.H1029L

c.3086A>T

1 paper

NM_000271.5

p.H1029R

c.3086A>G

2 papers

NM_000271.5

p.A1017T

c.3049G>A