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.G434R

c.1300G>A

Surrounding Variants

7 papers

NM_001101648.2

p.G434R

c.1300G>C

1 paper

NM_001101648.2

p.P429fs

c.1285_1286fs

1 paper

NM_001101648.2

p.P429T

c.1285C>A

1 paper

NM_001101648.2

p.L425delFs

c.1273_1274delAG

1 paper

NM_001101648.2

p.E443K

c.1327G>A

1 paper

NM_001101648.2

p.L425fs

c.1273_1274fs

1 paper

NM_001101648.2

p.L425L

c.1273C>T

1 paper

NM_001101648.2

p.S424C

c.1271C>G

1 paper

NM_001101648.2

p.Q448_E449insFs

c.1344_1345insA

9 papers

NM_001101648.2

p.R417W

c.1249C>T

1 paper

NM_001101648.2

p.R452W

c.1354C>T

1 paper

NM_001101648.2

p.P415T

c.1243C>A