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.T614M

c.1841C>T

Surrounding Variants

2 papers

NM_001101648.2

p.R605C

c.1813C>T

2 papers

NM_001101648.2

p.Q604*

c.1810C>T

1 paper

NM_001101648.2

p.Q604E

c.1810C>G

2 papers

NM_001101648.2

p.R601*

c.1801C>T

3 papers

NM_001101648.2

p.W592*

c.1776G>A

3 papers

NM_001101648.2

p.W592*

c.1775G>A

1 paper

NM_001101648.2

p.A587T

c.1759G>A

1 paper

NM_001101648.2

p.A569A

c.1707C>A

1 paper

NM_001101648.2

p.R619S

c.1855C>A

6 papers

NM_001101648.2

p.S620C

c.1859C>G

1 paper

NM_001101648.2

p.N626I

c.1877A>T

1 paper

NM_001101648.2

p.Y640S

c.1919A>C