Varaico: Literature-Extracted Genetic Variants

Gene:GPNMB

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
1–12 of 186 variants
14 papers
NM_002510.3
p.R189*
c.565C>T
7 papers
NM_002510.3
p.Y131*
c.393T>G
7 papers
NM_002510.3
p.V240delFs
c.719_720delTG
6 papers
NM_002510.3
p.Y131*
c.393T>A
6 papers
NM_002510.3
p.Y220*
c.660T>G
5 papers
NM_002510.3
p.N99delFs
c.296delA
5 papers
NM_002510.3
p.Y220*
c.660T>A
4 papers
NM_002510.3
p.W138*
c.413G>A
4 papers
NM_002510.3
p.W138*
c.414G>A
4 papers
NM_002510.3
p.D234Splc
c.700+5G>T
4 papers
NM_002510.3
p.V240fs
c.718_719fs
4 papers
NM_002510.3
p.V293_S294delFs
c.877_880del4
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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."