Varaico: Literature-Extracted Genetic Variants

Gene:GPNMB
Variant:p.S333delFs

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.S333delFs
c.997_998delTC
Surrounding Variants
1 paper
NM_002510.3
p.S333fs
c.997_998fs
1 paper
NM_002510.3
p.P330L
c.989C>T
1 paper
NM_002510.3
p.P335S
c.1003C>T
1 paper
NM_002510.3
p.P337insFs
c.1010_1011insA
1 paper
NM_002510.3
p.P326insFs
c.977dupC
2 papers
NM_002510.3
p.C323*
c.969T>A
1 paper
NM_002510.3
p.C323_P324ins10
c.967_971ins30
1 paper
NM_002510.3
p.P322T
c.964C>A
1 paper
NM_002510.3
p.P320L
c.959C>T
1 paper
NM_002510.3
p.A317D
c.950C>A
1 paper
NM_002510.3
p.K316delFs
c.946_947delAA
1 paper
NM_002510.3
p.N312N
c.936C>T
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