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.R411Q

c.1232G>A

Surrounding Variants

4 papers

NM_000271.5

p.R411P

c.1232G>C

1 paper

NM_000271.5

p.R411delFs

c.1231delG

1 paper

NM_000271.5

p.R411W

c.1231C>T

1 paper

NM_000271.5

p.I410T

c.1229T>C

3 papers

NM_000271.5

p.I409T

c.1226T>C

1 paper

NM_000271.5

p.P413insFs

c.1238dupC

1 paper

NM_000271.5

p.L408F

c.1222C>T

1 paper

NM_000271.5

p.L414fs

c.1240_1241fs

1 paper

NM_000271.5

p.Q407H

c.1221G>T

1 paper

NM_000271.5

p.Q407H

c.1221G>C

1 paper

NM_000271.5

p.L414delFs

c.1241_1242delGA

1 paper

NM_000271.5

p.Q407*

c.1219C>T