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

3 papers

NM_000271.5

p.L1060delFs

c.3179_3180delAA

Surrounding Variants

1 paper

NM_000271.5

p.I1061V

c.3181A>G

1 paper

NM_000271.5

p.I1061insFs

c.3181dupA

373 papers

NM_000271.5

p.I1061T

c.3182T>C

2 papers

NM_000271.5

p.L1060P

c.3179T>C

1 paper

NM_000271.5

p.I1061M

c.3183A>G

1 paper

NM_000271.5

p.L1060fs

c.3178_3179fs

1 paper

NM_000271.5

p.A1062T

c.3184G>A

5 papers

NM_000271.5

p.A1062V

c.3185C>T

1 paper

NM_000271.5

p.A1062delFs

c.3184delC

15 papers

NM_000271.5

p.R1059Q

c.3176G>A

9 papers

NM_000271.5

p.R1059*

c.3175C>T

1 paper

NM_000271.5

p.A1058A

c.3174C>A