Varaico: Literature-Extracted Genetic Variants

Gene:GMPPB
Variant:p.M347_E348insFs

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_013334.4
p.M347_E348insFs
c.1039_1043dup5
Surrounding Variants
1 paper
NM_021971.4
p.V318_M320delFs
c.953_959del7
2 papers
NM_021971.4
p.N322K
c.966C>G
5 papers
NM_021971.4
p.N322K
c.966C>A
NM_013334.4
p.N349K
c.1047C>A
1 paper
NM_021971.4
p.N322delFs
c.965_966delGT
1 paper
NM_021971.4
p.R319C
c.955C>T
2 papers
NM_021971.4
p.R319S
c.955C>A
NM_013334.4
p.R346S
c.1036C>A
4 papers
NM_013334.4
p.V345A
c.1034T>C
NM_021971.4
p.V318A
c.953T>C
1 paper
NM_021971.4
p.V318E
c.953T>A
1 paper
NM_021971.4
p.T324delFs
c.970_971delGT
1 paper
NM_021971.4
p.V318fs
c.952_953fs
2 papers
NM_013334.4
p.G354S
c.1060G>A
1 paper
NM_021971.4
p.G327insFs
c.979_980insGC
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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."