Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.S50R

NPC2

263 papers

RefSeq Summary

This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in...

Pfam Domains

E1_DerP2_DerF2aa 21–147UCSCML domain

Gene Aliases

HGNC Name

NPC intracellular cholesterol transporter 2

HGNC Alias Symbols

HE1; NP-C2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006432.5
p.S50R
c.148A>C
Surrounding Variants
1 paper
NM_006432.5
p.L49P
c.146T>C
1 paper
NM_006432.5
p.S50R
c.150C>G
1 paper
NM_006432.5
p.S50R
c.150C>A
2 papers
NM_006432.5
p.C47fs
c.139_140fs
9 papers
NM_006432.5
p.C47*
c.141C>A
14 papers
NM_006432.5
p.C47F
c.140G>T
1 paper
NM_006432.5
p.Q53fs
c.157_158fs
1 paper
NM_006432.5
p.Q53H
c.159G>T
1 paper
NM_006432.5
p.Q53H
c.159G>C
1 paper
NM_006432.5
p.P46H
c.137C>A
2 papers
NM_006432.5
p.S54insFs
c.160_161insG
8 papers
NM_006432.5
p.Q45*
c.133C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."