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.T1068S

c.3203C>G

Surrounding Variants

2 papers

NM_000271.5

p.T1068I

c.3203C>T

1 paper

NM_000271.5

p.T1068S

c.3202A>T

1 paper

NM_000271.5

p.M1069K

c.3206T>A

1 paper

NM_000271.5

p.E1067K

c.3199G>A

1 paper

NM_000271.5

p.T1066T

c.3198C>T

12 papers

NM_000271.5

p.T1066N

c.3197C>A

2 papers

NM_000271.5

p.T1066A

c.3196A>G

1 paper

NM_000271.5

p.I1071L

c.3211A>C

2 papers

NM_000271.5

p.V1065G

c.3194T>G

1 paper

NM_000271.5

p.N1072S

c.3215A>G

7 papers

NM_000271.5

p.G1073S

c.3217G>A

5 papers

NM_000271.5

p.A1062V

c.3185C>T