Varaico: Literature-Extracted Genetic Variants

Gene:GMPPB
Variant:p.V318A

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
1 paper
NM_013334.4
p.V318A
c.953T>C
Surrounding Variants
6 papers
NM_021971.4
p.G315S
c.943G>A
2 papers
NM_021971.4
p.R311C
c.931C>T
1 paper
NM_021971.4
p.I307T
c.920T>C
1 paper
NM_021971.4
p.I307F
c.919A>T
3 papers
NM_013334.4
p.G330R
c.988G>A
7 papers
NM_021971.4
p.L303F
c.907C>T
7 papers
NM_021971.4
p.S301C
c.902C>G
1 paper
NM_021971.4
p.R298H
c.893G>A
1 paper
NM_021971.4
p.V291_D294del4
c.871_881del12
5 papers
NM_021971.4
p.R293W
c.877C>T
1 paper
NM_021971.4
p.V318fs
c.952_953fs
4 papers
NM_013334.4
p.V345A
c.1034T>C
NM_021971.4
p.V318A
c.953T>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."