Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.P114A

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.P114A
c.340C>G
Surrounding Variants
2 papers
NM_006432.5
p.N111fs
c.331_332fs
5 papers
NM_006432.5
p.N111delFs
c.332delT
1 paper
NM_006432.5
p.S117S
c.351C>T
11 papers
NM_006432.5
p.E118*
c.352G>T
1 paper
NM_006432.5
p.E118K
c.352G>A
2 papers
NM_006432.5
p.Y119S
c.356A>C
1 paper
NM_006432.5
p.S108N
c.323G>A
16 papers
NM_006432.5
p.P120S
c.358C>T
2 papers
NM_006432.5
p.P120T
c.358C>A
1 paper
NM_006432.5
p.S121A
c.361T>G
1 paper
NM_006432.5
p.K105delFs
c.315delC
1 paper
NM_006432.5
p.D104delFs
c.311delT
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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."