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

1 paper

NM_000271.5

p.D416G

c.1247A>G

Surrounding Variants

2 papers

NM_000271.5

p.D416_K417insC

c.1246_1250ins3

1 paper

NM_000271.5

p.L414delFs

c.1241_1242delGA

1 paper

NM_000271.5

p.L414fs

c.1240_1241fs

1 paper

NM_000271.5

p.P413insFs

c.1238dupC

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.Y420H

c.1258T>C

3 papers

NM_000271.5

p.Y420S

c.1259A>C

8 papers

NM_000271.5

p.Q421*

c.1261C>T

4 papers

NM_000271.5

p.R411P

c.1232G>C

3 papers

NM_000271.5

p.R411Q

c.1232G>A

1 paper

NM_000271.5

p.R411delFs

c.1231delG