Varaico: Literature-Extracted Genetic Variants

Gene:GMPPB
Variant:p.I219T

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
11 papers
NM_021971.4
p.I219T
c.656T>C
Surrounding Variants
2 papers
NM_021971.4
p.I219F
c.655A>T
2 papers
NM_021971.4
p.G220R
c.658G>C
3 papers
NM_021971.4
p.G220R
c.658G>A
2 papers
NM_021971.4
p.G214S
c.640G>A
1 paper
NM_021971.4
p.G228insFs
c.684dupC
1 paper
NM_021971.4
p.C230F
c.689G>T
6 papers
NM_021971.4
p.Q234*
c.700C>T
1 paper
NM_021971.4
p.Q238H
c.714G>T
1 paper
NM_021971.4
p.Q238H
c.714G>C
4 papers
NM_021971.4
p.P241S
c.721C>T
6 papers
NM_021971.4
p.R243W
c.727C>T
1 paper
NM_021971.4
p.G247S
c.739G>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."