Varaico: Literature-Extracted Genetic Variants

Gene:GPNMB
Variant:p.V240delFs

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
7 papers
NM_002510.3
p.V240delFs
c.719_720delTG
Surrounding Variants
3 papers
NM_002510.3
p.F239fs
c.715_716fs
2 papers
NM_002510.3
p.V240fs
c.718_719fs
4 papers
NM_002510.3
p.V240fs
c.718_719fs
1 paper
NM_002510.3
p.Q244R
c.731A>G
2 papers
NM_002510.3
p.D234fs
c.700_701fs
1 paper
NM_002510.3
p.R248*
c.742C>T
1 paper
NM_002510.3
p.N249insFs
c.745_746ins4
1 paper
NM_002510.3
p.S250P
c.748T>C
1 paper
NM_002510.3
p.D252N
c.754G>A
1 paper
NM_002510.3
p.F263S
c.788T>C
1 paper
NM_002510.3
p.N275Y
c.823A>T
1 paper
NM_002510.3
p.N280I
c.839A>T
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