Varaico: Literature-Extracted Genetic Variants

Gene:GMPPB
Variant:p.Y364N

GMPPB

181 papers

RefSeq Summary

This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-l...

Pfam Domains

NTP_transferaseaa 2–235UCSCNucleotidyl transferase
GMPPB_Caa 250–359UCSCGMPPB C-terminal domain

Gene Aliases

HGNC Name

GDP-mannose pyrophosphorylase B

HGNC Alias Symbol

KIAA1851

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013334.4
p.Y364N
c.1090T>A
Surrounding Variants
1 paper
NM_021971.4
p.L338F
c.1012C>T
1 paper
NM_021971.4
p.L338_N339insFs
c.1012_1016dup5
2 papers
NM_021971.4
p.G340R
c.1018G>C
19 papers
NM_021971.4
p.D334N
c.1000G>A
NM_013334.4
p.D361N
c.1081G>A
5 papers
NM_021971.4
p.G340R
c.1018G>A
NM_013334.4
p.G367R
c.1099G>A
1 paper
NM_021971.4
p.G340fs
c.1018_1019fs
1 paper
NM_013334.4
p.V370L
c.1108G>T
3 papers
NM_013334.4
p.V370L
c.1108G>C
NM_021971.4
p.V343L
c.1027G>C
1 paper
NM_013334.4
p.D356_V357del1
c.1067_1069delCGT
15 papers
NM_013334.4
p.V357I
c.1069G>A
NM_021971.4
p.V330I
c.988G>A
1 paper
NM_021971.4
p.L344L
c.1032G>C
1 paper
NM_021971.4
p.E328insFs
c.982_983ins4
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