Varaico: Literature-Extracted Genetic Variants

Gene:GMPPA
Variant:p.R81Splc

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.R81Splc
c.243-2A>G
Surrounding Variants
2 papers
NM_013335.4
p.Q84K
c.250C>A
1 paper
NM_013335.4
p.Q84L
c.251A>T
1 paper
NM_013335.4
p.E85K
c.253G>A
1 paper
NM_013335.4
p.A87delFs
c.259delG
2 papers
NM_013335.4
p.L89insFs
c.265dupC
1 paper
NM_013335.4
p.A87fs
c.259_260fs
3 papers
NM_013335.4
p.L89fs
c.265_266fs
1 paper
NM_013335.4
p.G92V
c.275G>T
2 papers
NM_013335.4
p.G94C
c.280G>T
3 papers
NM_013335.4
p.R99*
c.295C>T
1 paper
NM_013335.4
p.I102N
c.305T>A
1 paper
NM_013335.4
p.I102M
c.306C>G
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