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

3 papers

NM_001101648.2

p.K879_D880Splc

c.2638-43G>A

Surrounding Variants

2 papers

NM_001101648.2

p.K879_D880Splc

c.2638-60T>G

1 paper

NM_001101648.2

p.K879_D880Splc

c.2638-84G>A

1 paper

NM_001101648.2

p.D880N

c.2638G>A

8 papers

NM_001101648.2

p.S881L

c.2642C>T

1 paper

NM_001101648.2

p.L890R

c.2669T>G

1 paper

NM_001101648.2

p.R892C

c.2674C>T

1 paper

NM_001101648.2

p.R892H

c.2675G>A

1 paper

NM_001101648.2

p.Y893D

c.2677T>G

1 paper

NM_001101648.2

p.A898fs

c.2692_2693fs

1 paper

NM_001101648.2

p.A898delFs

c.2692delC

1 paper

NM_001101648.2

p.P899L

c.2696C>T

1 paper

NM_001101648.2

p.P899P

c.2697G>A