Varaico: Literature-Extracted Genetic Variants

Gene:GPNMB
Variant:p.Y131*

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.Y131*
c.393T>G
Surrounding Variants
6 papers
NM_002510.3
p.Y131*
c.393T>A
3 papers
NM_002510.3
p.P130P
c.390G>A
1 paper
NM_002510.3
p.A128G
c.383C>G
4 papers
NM_002510.3
p.W138*
c.413G>A
4 papers
NM_002510.3
p.W138*
c.414G>A
1 paper
NM_002510.3
p.A124_G125insFs
c.372_373insC
2 papers
NM_002510.3
p.E123Splc
c.368-1G>A
1 paper
NM_002510.3
p.E140D
c.420G>C
1 paper
NM_002510.3
p.E140D
c.420G>T
1 paper
NM_002510.3
p.T148A
c.442A>G
1 paper
NM_002510.3
p.T148S
c.442A>T
1 paper
NM_002510.3
p.T148S
c.443C>G
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