Varaico: Literature-Extracted Genetic Variants

NPC1L1

204 papers

RefSeq Summary

The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL mot...

Pfam Domains

NPC1_Naa 30–283UCSCNiemann-Pick C1 N terminus

NPC1_MLDaa 394–619UCSCNPC1, middle luminal domain

Sterol-sensingaa 661–815UCSCSterol-sensing domain of SREBP cleavage-activation

Gene Aliases

HGNC Name

NPC1 like intracellular cholesterol transporter 1

HGNC Alias Symbol

SLC65A2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001101648.2

p.N527K

c.1581T>A

Surrounding Variants

1 paper

NM_001101648.2

p.N527K

c.1581T>G

1 paper

NM_001101648.2

p.N527D

c.1579A>G

1 paper

NM_001101648.2

p.P529L

c.1586C>T

1 paper

NM_001101648.2

p.N527Splc

c.1581-6C>G

1 paper

NM_001101648.2

p.T531I

c.1592C>T

1 paper

NM_001101648.2

p.F532C

c.1595T>G

1 paper

NM_001101648.2

p.K533E

c.1597A>G

1 paper

NM_001101648.2

p.P552S

c.1654C>T

1 paper

NM_001101648.2

p.G557A

c.1670G>C

2 papers

NM_001101648.2

p.G561Splc

c.1681+1G>A

1 paper

NM_001101648.2

p.A569A

c.1707C>A

1 paper

NM_001101648.2

p.A587T

c.1759G>A