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.C352_V353del2

c.1054_1058del6

Surrounding Variants

2 papers

NM_000271.5

p.C352F

c.1055G>T

1 paper

NM_000271.5

p.F356I

c.1066T>A

1 paper

NM_000271.5

p.G351V

c.1052G>T

1 paper

NM_000271.5

p.G351A

c.1052G>C

7 papers

NM_000271.5

p.S357L

c.1070C>T

1 paper

NM_000271.5

p.P350R

c.1049C>G

1 paper

NM_000271.5

p.P350H

c.1049C>A

1 paper

NM_000271.5

p.P350T

c.1048C>A

1 paper

NM_000271.5

p.F360V

c.1078T>G

1 paper

NM_000271.5

p.F360L

c.1078T>C

8 papers

NM_000271.5

p.R348*

c.1042C>T

1 paper

NM_000271.5

p.R348G

c.1042C>G