Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.I147_V148Splc

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.I147_V148Splc
c.441+1G>C
Surrounding Variants
24 papers
NM_006432.5
p.I147_V148Splc
c.441+1G>A
7 papers
NM_006432.5
p.Q146*
c.436C>T
4 papers
NM_006432.5
p.V145E
c.434T>A
2 papers
NM_006432.5
p.E142delFs
c.425_426delTT
1 paper
NM_006432.5
p.F139F
c.417C>T
2 papers
NM_006432.5
p.Q136_S137delFs
c.408_409delTT
1 paper
NM_006432.5
p.Q131K
c.391C>A
1 paper
NM_006432.5
p.V126M
c.376G>A
1 paper
NM_006432.5
p.L124R
c.371T>G
1 paper
NM_006432.5
p.S121_I122Splc
c.364-2A>G
1 paper
NM_006432.5
p.S121_I122Splc
c.364-4C>T
2 papers
NM_006432.5
p.I147_V148Splc
c.442-4A>C
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