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

2 papers

NM_001101648.2

p.V177I

c.529G>A

Surrounding Variants

1 paper

NM_001101648.2

p.P178H

c.533C>A

6 papers

NM_001101648.2

p.R174H

c.521G>A

1 paper

NM_001101648.2

p.D170A

c.509A>C

1 paper

NM_001101648.2

p.Q167fs

c.499_500fs

4 papers

NM_001101648.2

p.Q167*

c.499C>T

1 paper

NM_001101648.2

p.E166K

c.496G>A

1 paper

NM_001101648.2

p.A165S

c.493G>T

1 paper

NM_001101648.2

p.V191A

c.572T>C

1 paper

NM_001101648.2

p.Y160Y

c.480C>T

1 paper

NM_001101648.2

p.S194F

c.581C>T

1 paper

NM_001101648.2

p.A195V

c.584C>T

1 paper

NM_001101648.2

p.A195G

c.584C>G