Varaico: Literature-Extracted Genetic Variants

Gene:GPNMB
Variant:p.N306S

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.N306S
c.917A>G
Surrounding Variants
1 paper
NM_002510.3
p.T308N
c.923C>A
1 paper
NM_002510.3
p.T308S
c.923C>G
1 paper
NM_002510.3
p.S310_C323del14
c.928_968del42
2 papers
NM_002510.3
p.N312delFs
c.935delA
1 paper
NM_002510.3
p.N312fs
c.934_935fs
1 paper
NM_002510.3
p.N300Y
c.898A>T
1 paper
NM_002510.3
p.N312N
c.936C>T
1 paper
NM_002510.3
p.K316delFs
c.946_947delAA
1 paper
NM_002510.3
p.A317D
c.950C>A
2 papers
NM_002510.3
p.S294F
c.881C>T
3 papers
NM_002510.3
p.V293fs
c.877_878fs
1 paper
NM_002510.3
p.F292L
c.876T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."