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

7 papers

NM_001101648.2

p.N132S

c.395A>G

Surrounding Variants

1 paper

NM_001101648.2

p.S130G

c.388A>G

1 paper

NM_001101648.2

p.T128M

c.383C>T

2 papers

NM_001101648.2

p.T128A

c.382A>G

1 paper

NM_001101648.2

p.R141C

c.421C>T

1 paper

NM_001101648.2

p.V142M

c.424G>A

1 paper

NM_001101648.2

p.Q144_L145insFs

c.432_433insA

1 paper

NM_001101648.2

p.L145P

c.434T>C

1 paper

NM_001101648.2

p.G146R

c.436G>C

1 paper

NM_001101648.2

p.G146R

c.436G>A

1 paper

NM_001101648.2

p.A147A

c.441T>C

2 papers

NM_001101648.2

p.L150F

c.448C>T

1 paper

NM_001101648.2

p.C113delFs

c.337delA