Varaico: Literature-Extracted Genetic Variants

Gene:GMPPB
Variant:p.K347_S348insFs

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
4 papers
NM_021971.4
p.K347_S348insFs
c.1039_1043dup5
Surrounding Variants
3 papers
NM_021971.4
p.I349fs
c.1045_1046fs
1 paper
NM_021971.4
p.S348ins1
c.1043_1044insAGA
1 paper
NM_021971.4
p.I349insFs
c.1045_1046insG
4 papers
NM_021971.4
p.H346N
c.1036C>A
1 paper
NM_021971.4
p.S352*
c.1055C>G
1 paper
NM_021971.4
p.E351_S352insFs
c.1051_1054dup4
1 paper
NM_021971.4
p.S352*
c.1055C>A
1 paper
NM_021971.4
p.L344L
c.1032G>C
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_021971.4
p.L338_N339insFs
c.1012_1016dup5
2 papers
NM_021971.4
p.G340R
c.1018G>C
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