Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.M1L

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
2 papers
NM_006432.5
p.M1L
c.1A>C
Surrounding Variants
2 papers
NM_006432.5
p.M1L
c.1A>T
1 paper
NM_006432.5
p.M1insFs
c.2_3insG
4 papers
NM_006432.5
p.M1I
c.3G>T
4 papers
NM_006432.5
p.M1_R2insFs
c.3_4insT
1 paper
NM_006432.5
p.M1_R2insFs
c.3_4insTC
4 papers
NM_006432.5
p.M1I
c.3G>C
4 papers
NM_006432.5
p.M1I
c.3G>A
1 paper
NM_006432.5
p.M1_R2insFs
c.3_4insG
2 papers
NM_006432.5
p.R2_F3insT
c.4_8ins3
1 paper
NM_006432.5
p.F3_L4insG
c.7_11ins3
1 paper
NM_006432.5
p.A5_T7delFs
c.14_20del7
1 paper
NM_006432.5
p.A6_T7delFs
c.17_21del5
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