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.S1197_V1198Splc

c.3591+1G>T

Surrounding Variants

14 papers

NM_000271.5

p.S1197_V1198Splc

c.3591+1G>A

2 papers

NM_000271.5

p.S1197_V1198Splc

c.3591+2T>C

1 paper

NM_000271.5

p.S1197_V1198ins15

c.3591_3592ins45

2 papers

NM_000271.5

p.S1197_V1198Splc

c.3591+3G>C

1 paper

NM_000271.5

p.S1197Y

c.3590C>A

2 papers

NM_000271.5

p.S1197_V1198ins15

c.3589_3593ins45

3 papers

NM_000271.5

p.S1197_V1198Splc

c.3591+5G>A

5 papers

NM_000271.5

p.G1195V

c.3584G>T

1 paper

NM_000271.5

p.M1194T

c.3581T>C

1 paper

NM_000271.5

p.M1194V

c.3580A>G

2 papers

NM_000271.5

p.H1193Y

c.3577C>T

2 papers

NM_000271.5

p.A1190_L1191insFs

c.3570_3573dup4