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

8 papers

NM_000271.5

p.Q421*

c.1261C>T

Surrounding Variants

3 papers

NM_000271.5

p.Y420S

c.1259A>C

1 paper

NM_000271.5

p.Y420H

c.1258T>C

1 paper

NM_000271.5

p.I419F

c.1255A>T

2 papers

NM_000271.5

p.I419V

c.1255A>G

1 paper

NM_000271.5

p.Y423C

c.1268A>G

1 paper

NM_000271.5

p.Y423*

c.1269C>G

1 paper

NM_000271.5

p.Y423*

c.1269C>A

4 papers

NM_000271.5

p.P424S

c.1270C>T

4 papers

NM_000271.5

p.P424A

c.1270C>G

2 papers

NM_000271.5

p.P424_S425insGA

c.1270_1274ins6

4 papers

NM_000271.5

p.S425L

c.1274C>T

6 papers

NM_000271.5

p.S425*

c.1274C>A