Varaico: Literature-Extracted Genetic Variants

Gene:PGGT1B

PGGT1B

27 papers

RefSeq Summary

Protein geranylgeranyltransferase type I (GGTase-I) transfers a geranylgeranyl group to the cysteine residue of candidate proteins containing a C-terminal CAAX motif in which 'A' is an aliphatic amino...

Pfam Domains

Prenyltransaa 20–346UCSCPrenyltransferase alpha-alpha toroid domain

Gene Aliases

HGNC Name

protein geranylgeranyltransferase type I subunit beta

HGNC Alias Symbols

GGTI; BGGI

Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
1 paper
NM_005023.4
p.T4P
c.10A>C
1 paper
NM_005023.4
p.G13D
c.38G>A
1 paper
NM_005023.4
p.S42T
c.124T>A
1 paper
NM_005023.4
p.S46delFs
c.136delT
1 paper
NM_005023.4
p.L48W
c.143T>G
1 paper
NM_005023.4
p.S56S
c.168C>T
1 paper
NM_005023.4
p.D86V
c.257A>T
1 paper
NM_005023.4
p.R87Splc
c.260-4C>T
1 paper
NM_005023.4
p.L151W
c.452T>G
1 paper
NM_005023.4
p.V164L
c.490G>T
1 paper
NM_005023.4
p.V164L
c.490G>C
1 paper
NM_005023.4
p.M184L
c.550A>T
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