Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.D104delFs

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.D104delFs
c.311delT
Surrounding Variants
1 paper
NM_006432.5
p.K105delFs
c.315delC
1 paper
NM_006432.5
p.S108N
c.323G>A
6 papers
NM_006432.5
p.C99R
c.295T>C
2 papers
NM_006432.5
p.N98H
c.292A>C
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.I97delFs
c.289delT
1 paper
NM_006432.5
p.P114A
c.340C>G
1 paper
NM_006432.5
p.C93fs
c.277_278fs
10 papers
NM_006432.5
p.C93F
c.278G>T
1 paper
NM_006432.5
p.C93R
c.277T>C
1 paper
NM_006432.5
p.S117S
c.351C>T
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