Varaico: Literature-Extracted Genetic Variants

Gene:GPNMB
Variant:p.G112D

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.G112D
c.335G>A
Surrounding Variants
1 paper
NM_002510.3
p.N111S
c.332A>G
1 paper
NM_002510.3
p.A110D
c.329C>A
1 paper
NM_002510.3
p.A110V
c.329C>T
1 paper
NM_002510.3
p.D109N
c.325G>A
1 paper
NM_002510.3
p.E108insFs
c.323_324ins10
1 paper
NM_002510.3
p.C120R
c.358T>C
1 paper
NM_002510.3
p.R104fs
c.310_311fs
2 papers
NM_002510.3
p.R104_E108delFs
c.310_323del14
1 paper
NM_002510.3
p.E123A
c.368A>C
1 paper
NM_002510.3
p.N99fs
c.295_296fs
3 papers
NM_002510.3
p.N99fs
c.295_296fs
5 papers
NM_002510.3
p.N99delFs
c.296delA
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