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.V1078I

c.3232G>A

Surrounding Variants

1 paper

NM_000271.5

p.R1077P

c.3230G>C

12 papers

NM_000271.5

p.R1077Q

c.3230G>A

5 papers

NM_000271.5

p.F1079L

c.3235T>C

7 papers

NM_000271.5

p.R1077*

c.3229C>T

5 papers

NM_000271.5

p.F1079S

c.3236T>C

5 papers

NM_000271.5

p.F1079L

c.3237T>G

5 papers

NM_000271.5

p.F1079L

c.3237T>A

2 papers

NM_000271.5

p.V1078_F1079insFs

c.3234_3237dup4

3 papers

NM_000271.5

p.Y1081*

c.3243C>G

3 papers

NM_000271.5

p.Y1081*

c.3243C>A

1 paper

NM_000271.5

p.S1082Splc

c.3245+1G>T

7 papers

NM_000271.5

p.G1073S

c.3217G>A