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.P477L

c.1430C>T

Surrounding Variants

1 paper

NM_001101648.2

p.D478H

c.1432G>C

1 paper

NM_001101648.2

p.D478N

c.1432G>A

1 paper

NM_001101648.2

p.L475fs

c.1423_1424fs

1 paper

NM_001101648.2

p.L475delFs

c.1424delA

1 paper

NM_001101648.2

p.L475I

c.1423C>A

1 paper

NM_001101648.2

p.P474L

c.1421C>T

1 paper

NM_001101648.2

p.P474S

c.1420C>T

2 papers

NM_001101648.2

p.Y483*

c.1449C>G

2 papers

NM_001101648.2

p.Y483*

c.1449C>A

1 paper

NM_001101648.2

p.S489G

c.1465A>G

1 paper

NM_001101648.2

p.P459L

c.1376C>T

1 paper

NM_001101648.2

p.N497S

c.1490A>G