Varaico: Literature-Extracted Genetic Variants

Gene:GPNMB
Variant:p.Y220*

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
6 papers
NM_002510.3
p.Y220*
c.660T>G
Surrounding Variants
5 papers
NM_002510.3
p.Y220*
c.660T>A
1 paper
NM_002510.3
p.Q225_V226Fs
c.675_676delinsGFs
1 paper
NM_002510.3
p.R215*
c.643A>T
1 paper
NM_002510.3
p.V212L
c.634G>C
1 paper
NM_002510.3
p.V210E
c.629T>A
1 paper
NM_002510.3
p.D234Splc
c.700+2T>C
4 papers
NM_002510.3
p.D234Splc
c.700+5G>T
1 paper
NM_002510.3
p.N197K
c.591C>A
1 paper
NM_002510.3
p.N197K
c.591C>G
1 paper
NM_002510.3
p.V196L
c.586G>T
1 paper
NM_002510.3
p.S195C
c.584C>G
14 papers
NM_002510.3
p.R189*
c.565C>T
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