Varaico: Literature-Extracted Genetic Variants

Gene:GPNMB
Variant:p.N280I

GPNMB

245 papers

RefSeq Summary

The protein encoded by this gene is a type I transmembrane glycoprotein which shows homology to the pMEL17 precursor, a melanocyte-specific protein. GPNMB shows expression in the lowly metastatic huma...

Pfam Domains

PMEL_NMB_Naa 52–233UCSCPMEL/NMB N-terminal domain
PKD_4aa 250–322UCSCPKD domain
PKAT_KLDaa 415–465UCSCPKAT, KLD domain

Gene Aliases

HGNC Name

glycoprotein nmb

HGNC Alias Symbol

HGFIN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002510.3
p.N280I
c.839A>T
Surrounding Variants
1 paper
NM_002510.3
p.Y281C
c.842A>G
1 paper
NM_002510.3
p.N275Y
c.823A>T
1 paper
NM_002510.3
p.T289I
c.866C>T
4 papers
NM_002510.3
p.V293_S294delFs
c.877_880del4
1 paper
NM_002510.3
p.L291L
c.873G>A
1 paper
NM_002510.3
p.F292L
c.874T>C
1 paper
NM_002510.3
p.F292L
c.876T>A
1 paper
NM_002510.3
p.F292L
c.876T>G
3 papers
NM_002510.3
p.V293fs
c.877_878fs
2 papers
NM_002510.3
p.S294F
c.881C>T
1 paper
NM_002510.3
p.F263S
c.788T>C
1 paper
NM_002510.3
p.N300Y
c.898A>T
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