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

2 papers

NM_000271.5

p.V856A

c.2567T>C

Surrounding Variants

1 paper

NM_000271.5

p.V852_K855del4

c.2554_2564del12

1 paper

NM_000271.5

p.I858F

c.2572A>T

48 papers

NM_000271.5

p.I858V

c.2572A>G

1 paper

NM_000271.5

p.I858T

c.2573T>C

1 paper

NM_000271.5

p.I858fs

c.2572_2573fs

1 paper

NM_000271.5

p.V852F

c.2554G>T

2 papers

NM_000271.5

p.A851T

c.2551G>A

1 paper

NM_000271.5

p.I850M

c.2550C>G

6 papers

NM_000271.5

p.Q862L

c.2585A>T

4 papers

NM_000271.5

p.S863P

c.2587T>C

7 papers

NM_000271.5

p.S849I

c.2546G>T

1 paper

NM_000271.5

p.L864F

c.2590C>T