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.W344L

c.1031G>T

Surrounding Variants

1 paper

NM_001101648.2

p.G345D

c.1034G>A

1 paper

NM_001101648.2

p.Q342H

c.1026G>T

1 paper

NM_001101648.2

p.Q342H

c.1026G>C

1 paper

NM_001101648.2

p.Q342*

c.1024C>T

2 papers

NM_001101648.2

p.W347R

c.1039T>C

2 papers

NM_001101648.2

p.W347R

c.1039T>A

1 paper

NM_001101648.2

p.L337del1

c.1009_1010delAAG

1 paper

NM_001101648.2

p.V360I

c.1078G>A

1 paper

NM_001101648.2

p.I361del1

c.1081_1082delGAT

1 paper

NM_001101648.2

p.S326C

c.977C>G

1 paper

NM_001101648.2

p.T323P

c.967A>C

1 paper

NM_001101648.2

p.M316V

c.946A>G