Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.V73M

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.V73M
c.217G>A
Surrounding Variants
1 paper
NM_006432.5
p.S70_K71insFs
c.210_213dup4
1 paper
NM_006432.5
p.A72fs
c.214_215fs
2 papers
NM_006432.5
p.V74V
c.222G>A
4 papers
NM_006432.5
p.K71R
c.212A>G
1 paper
NM_006432.5
p.H75L
c.224A>T
1 paper
NM_006432.5
p.I77fs
c.229_230fs
13 papers
NM_006432.5
p.S67P
c.199T>C
1 paper
NM_006432.5
p.M79V
c.235A>G
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.N64I
c.191A>T
1 paper
NM_006432.5
p.V83F
c.247G>T
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