Varaico: Literature-Extracted Genetic Variants

Gene:GMPPA
Variant:p.M369V

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.M369V
c.1105A>G
Surrounding Variants
1 paper
NM_013335.4
p.E372A
c.1115A>C
2 papers
NM_013335.4
p.S373T
c.1118G>C
1 paper
NM_013335.4
p.K379N
c.1137G>C
1 paper
NM_013335.4
p.K379N
c.1137G>T
1 paper
NM_013335.4
p.V353M
c.1057G>A
1 paper
NM_013335.4
p.R352H
c.1055G>A
2 papers
NM_013335.4
p.G388Splc
c.1162+37T>A
3 papers
NM_013335.4
p.T334M
c.1001C>T
7 papers
NM_013335.4
p.T334P
c.1000A>C
3 papers
NM_013335.4
p.Q331_E332Splc
c.993+1G>A
1 paper
NM_013335.4
p.R320P
c.959G>C
3 papers
NM_013335.4
p.R318W
c.952C>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."