Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.P86L

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.P86L
c.257C>T
Surrounding Variants
1 paper
NM_006432.5
p.P86P
c.258C>A
1 paper
NM_006432.5
p.I77_V83delFs
c.230_249del20
2 papers
NM_006432.5
p.E89K
c.265G>A
1 paper
NM_006432.5
p.V83F
c.247G>T
1 paper
NM_006432.5
p.P90R
c.269C>G
4 papers
NM_006432.5
p.D91N
c.271G>A
2 papers
NM_006432.5
p.V81A
c.242T>C
3 papers
NM_006432.5
p.V81D
c.242T>A
1 paper
NM_006432.5
p.D91V
c.272A>T
1 paper
NM_006432.5
p.C93R
c.277T>C
10 papers
NM_006432.5
p.C93F
c.278G>T
1 paper
NM_006432.5
p.C93fs
c.277_278fs
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