Varaico: Literature-Extracted Genetic Variants

Gene:GMPPA
Variant:p.K379N

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.K379N
c.1137G>C
Surrounding Variants
1 paper
NM_013335.4
p.K379N
c.1137G>T
2 papers
NM_013335.4
p.S373T
c.1118G>C
1 paper
NM_013335.4
p.E372A
c.1115A>C
1 paper
NM_013335.4
p.M369V
c.1105A>G
2 papers
NM_013335.4
p.G388Splc
c.1162+37T>A
1 paper
NM_013335.4
p.V353M
c.1057G>A
1 paper
NM_013335.4
p.R352H
c.1055G>A
3 papers
NM_013335.4
p.T334M
c.1001C>T
7 papers
NM_013335.4
p.T334P
c.1000A>C
2 papers
NM_013335.4
p.R390Q
c.1169G>A
3 papers
NM_013335.4
p.R390P
c.1169G>C
1 paper
NM_013335.4
p.A395A
c.1185C>T
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