Varaico: Literature-Extracted Genetic Variants

Gene:GPNMB
Variant:p.G91C

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.G91C
c.271G>T
Surrounding Variants
1 paper
NM_002510.3
p.P87L
c.260C>T
2 papers
NM_002510.3
p.T95I
c.284C>T
1 paper
NM_002510.3
p.D85_S92delFs
c.253_274del22
5 papers
NM_002510.3
p.N99delFs
c.296delA
1 paper
NM_002510.3
p.N99fs
c.295_296fs
3 papers
NM_002510.3
p.N99fs
c.295_296fs
1 paper
NM_002510.3
p.L82R
c.245T>G
1 paper
NM_002510.3
p.Q79R
c.236A>G
1 paper
NM_002510.3
p.Q79L
c.236A>T
1 paper
NM_002510.3
p.Q79E
c.235C>G
2 papers
NM_002510.3
p.R104_E108delFs
c.310_323del14
1 paper
NM_002510.3
p.R104fs
c.310_311fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."