Varaico: Literature-Extracted Genetic Variants

Gene:GMPPB
Variant:p.G131C

GMPPB

181 papers

RefSeq Summary

This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-l...

Pfam Domains

NTP_transferaseaa 2–235UCSCNucleotidyl transferase
GMPPB_Caa 250–359UCSCGMPPB C-terminal domain

Gene Aliases

HGNC Name

GDP-mannose pyrophosphorylase B

HGNC Alias Symbol

KIAA1851

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_021971.4
p.G131C
c.391G>T
Surrounding Variants
1 paper
NM_021971.4
p.S132A
c.394T>G
5 papers
NM_021971.4
p.S132C
c.395C>G
6 papers
NM_021971.4
p.L134_V135Splc
c.402+1G>A
1 paper
NM_021971.4
p.H126Y
c.376C>T
2 papers
NM_021971.4
p.H126D
c.376C>G
1 paper
NM_021971.4
p.A119A
c.357C>A
3 papers
NM_021971.4
p.P116S
c.346C>T
1 paper
NM_021971.4
p.D114N
c.340G>A
6 papers
NM_021971.4
p.C113Y
c.338G>A
1 paper
NM_021971.4
p.F105_I112delFs
c.313_334del22
2 papers
NM_021971.4
p.V111G
c.332T>G
1 paper
NM_021971.4
p.V111A
c.332T>C
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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."