Varaico: Literature-Extracted Genetic Variants

Gene:GMPPA
Variant:p.V197G

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.V197G
c.590T>G
Surrounding Variants
1 paper
NM_013335.4
p.D196fs
c.586_587fs
1 paper
NM_013335.4
p.Q202*
c.604C>T
1 paper
NM_013335.4
p.L191S
c.572T>C
1 paper
NM_013335.4
p.G205V
c.614G>T
5 papers
NM_013335.4
p.G182D
c.545G>A
2 papers
NM_013335.4
p.W214*
c.641G>A
3 papers
NM_013335.4
p.W214*
c.642G>A
1 paper
NM_013335.4
p.A251T
c.751G>A
1 paper
NM_013335.4
p.Y256Y
c.768C>T
1 paper
NM_013335.4
p.R264*
c.790C>T
1 paper
NM_013335.4
p.Q266*
c.796C>T
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."