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

1–12 of 2045 variants

373 papers

NM_000271.5

p.I1061T

c.3182T>C

163 papers

NM_000271.5

p.P1007A

c.3019C>G

80 papers

NM_000271.5

p.P237S

c.709C>T

73 papers

NM_000271.5

p.G992W

c.2974G>T

64 papers

NM_000271.5

p.S954L

c.2861C>T

62 papers

NM_000271.5

p.G992R

c.2974G>C

59 papers

NM_000271.5

p.H215R

c.644A>G

58 papers

NM_000271.5

p.G992R

c.2974G>A

57 papers

NM_000271.5

p.S940L

c.2819C>T

50 papers

NM_000271.5

p.D1005G

c.3014A>G

48 papers

NM_000271.5

p.I858V

c.2572A>G

46 papers

NM_000271.5

p.R1186H

c.3557G>A