Varaico: Literature-Extracted Genetic Variants

Gene:GMPPB
Variant:p.R287R

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_021971.4
p.R287R
c.859C>A
Surrounding Variants
21 papers
NM_021971.4
p.R287W
c.859C>T
2 papers
NM_021971.4
p.R287P
c.860G>C
31 papers
NM_021971.4
p.R287Q
c.860G>A
1 paper
NM_021971.4
p.R288G
c.862C>G
1 paper
NM_021971.4
p.C285delFs
c.854_855delAC
3 papers
NM_021971.4
p.R288Q
c.863G>A
1 paper
NM_021971.4
p.C285fs
c.853_854fs
1 paper
NM_021971.4
p.T290M
c.869C>T
1 paper
NM_021971.4
p.G283A
c.848G>C
3 papers
NM_021971.4
p.E281Q
c.841G>C
3 papers
NM_021971.4
p.E281K
c.841G>A
5 papers
NM_021971.4
p.R293W
c.877C>T
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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."