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.T111N

c.332C>A

Surrounding Variants

1 paper

NM_001101648.2

p.T111I

c.332C>T

1 paper

NM_001101648.2

p.R112C

c.334C>T

1 paper

NM_001101648.2

p.R112H

c.335G>A

7 papers

NM_001101648.2

p.L110F

c.328C>T

1 paper

NM_001101648.2

p.C113R

c.337T>C

1 paper

NM_001101648.2

p.C113delFs

c.337delA

1 paper

NM_001101648.2

p.I105T

c.314T>C

1 paper

NM_001101648.2

p.S102I

c.305G>T

2 papers

NM_001101648.2

p.T128A

c.382A>G

1 paper

NM_001101648.2

p.T128M

c.383C>T

1 paper

NM_001101648.2

p.S130G

c.388A>G

7 papers

NM_001101648.2

p.N132S

c.395A>G