Varaico: Literature-Extracted Genetic Variants

Gene:GMPPB
Variant:p.T153I

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
14 papers
NM_021971.4
p.T153I
c.458C>T
Surrounding Variants
2 papers
NM_021971.4
p.T153delFs
c.458_459delTG
1 paper
NM_021971.4
p.G154V
c.461G>T
1 paper
NM_021971.4
p.G154D
c.461G>A
1 paper
NM_021971.4
p.R155C
c.463C>T
1 paper
NM_021971.4
p.R155fs
c.463_464fs
7 papers
NM_021971.4
p.R155H
c.464G>A
1 paper
NM_021971.4
p.E150Q
c.448G>C
1 paper
NM_021971.4
p.R158W
c.472C>T
1 paper
NM_021971.4
p.R158Q
c.473G>A
1 paper
NM_021971.4
p.E161G
c.482A>G
1 paper
NM_021971.4
p.K162R
c.485A>G
1 paper
NM_021971.4
p.K143R
c.428A>G
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