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

2 papers

NM_001101648.2

p.L52P

c.155T>C

Surrounding Variants

1 paper

NM_001101648.2

p.S53F

c.158C>T

5 papers

NM_001101648.2

p.V55L

c.163G>T

5 papers

NM_001101648.2

p.V55L

c.163G>C

2 papers

NM_001101648.2

p.V55M

c.163G>A

1 paper

NM_001101648.2

p.S59T

c.175T>A

7 papers

NM_001101648.2

p.T61M

c.182C>T

1 paper

NM_001101648.2

p.F35_P43delFs

c.103_127del25

1 paper

NM_001101648.2

p.N42_P43insCTG

c.124_128ins9

1 paper

NM_001101648.2

p.R64H

c.191G>A

1 paper

NM_001101648.2

p.E38G

c.113A>G

1 paper

NM_001101648.2

p.E38K

c.112G>A

1 paper

NM_001101648.2

p.A34V

c.101C>T