Varaico: Literature-Extracted Genetic Variants

Gene:GMPPB
Variant:p.R185C

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
13 papers
NM_021971.4
p.R185C
c.553C>T
Surrounding Variants
1 paper
NM_021971.4
p.R185S
c.553C>A
10 papers
NM_021971.4
p.Q184R
c.551A>G
5 papers
NM_021971.4
p.Q187*
c.559C>T
1 paper
NM_021971.4
p.S179G
c.535A>G
1 paper
NM_021971.4
p.Y176H
c.526T>C
4 papers
NM_021971.4
p.G174S
c.520G>A
4 papers
NM_021971.4
p.S168F
c.503C>T
1 paper
NM_021971.4
p.K162R
c.485A>G
1 paper
NM_021971.4
p.E161G
c.482A>G
1 paper
NM_021971.4
p.R158Q
c.473G>A
1 paper
NM_021971.4
p.R158W
c.472C>T
7 papers
NM_021971.4
p.R155H
c.464G>A
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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."