Varaico: Literature-Extracted Genetic Variants

Gene:GMPPA
Variant:p.V300_L301Splc

GMPPA

60 papers

RefSeq Summary

This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-li...

Pfam Domains

NTP_transferaseaa 3–210UCSCNucleotidyl transferase
GMPPB_Caa 283–419UCSCGMPPB C-terminal domain

Gene Aliases

HGNC Name

GDP-mannose pyrophosphorylase A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013335.4
p.V300_L301Splc
c.901-103G>T
Surrounding Variants
1 paper
NM_013335.4
p.S306F
c.917C>T
1 paper
NM_013335.4
p.S298L
c.893C>T
3 papers
NM_013335.4
p.G308R
c.922G>A
3 papers
NM_013335.4
p.G308R
c.922G>C
1 paper
NM_013335.4
p.G310W
c.928G>T
1 paper
NM_013335.4
p.A293T
c.877G>A
2 papers
NM_013335.4
p.T292P
c.874A>C
3 papers
NM_013335.4
p.R318W
c.952C>T
1 paper
NM_013335.4
p.R320P
c.959G>C
3 papers
NM_013335.4
p.Q331_E332Splc
c.993+1G>A
2 papers
NM_013335.4
p.G285Splc
c.853+1G>A
1 paper
NM_013335.4
p.A274G
c.821C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."