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.H221Y

c.661C>T

Surrounding Variants

1 paper

NM_001101648.2

p.H221R

c.662A>G

1 paper

NM_001101648.2

p.D217A

c.650A>C

2 papers

NM_001101648.2

p.P215A

c.643C>G

1 paper

NM_001101648.2

p.V229M

c.685G>A

1 paper

NM_001101648.2

p.G230V

c.689G>T

1 paper

NM_001101648.2

p.G232E

c.695G>A

1 paper

NM_001101648.2

p.D208E

c.624C>G

1 paper

NM_001101648.2

p.D208E

c.624C>A

1 paper

NM_001101648.2

p.G207*

c.619G>T

1 paper

NM_001101648.2

p.P235L

c.704C>T

1 paper

NM_001101648.2

p.N237Y

c.709A>T

1 paper

NM_001101648.2

p.E238K

c.712G>A