Varaico: Literature-Extracted Genetic Variants

Gene:RABGGTB
Variant:p.D136insFs

RABGGTB

34 papers

RefSeq Summary

This gene encodes the beta-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the protein prenyltransferase family. RabGGTase catalyzes the post-translational addition ...

Pfam Domains

Prenyltransaa 18–315UCSCPrenyltransferase alpha-alpha toroid domain

Gene Aliases

HGNC Name

Rab geranylgeranyltransferase subunit beta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004582.4
p.D136insFs
c.406_407insT
Surrounding Variants
1 paper
NM_004582.4
p.L107L
c.321G>T
1 paper
NM_004582.4
p.A101V
c.302C>T
1 paper
NM_004582.4
p.H94delFs
c.282delT
1 paper
NM_004582.4
p.G49_Y51del3
c.145_152del9
1 paper
NM_004582.4
p.S42_E43delFs
c.124_127del4
1 paper
NM_004582.4
p.L153S
c.458T>C
1 paper
NM_004582.4
p.L156S
c.467T>C
1 paper
NM_004582.4
p.I162T
c.485T>C
1 paper
NM_004582.4
p.E165K
c.493G>A
1 paper
NM_004582.4
p.I168I
c.504C>T
1 paper
NM_004582.4
p.G179S
c.535G>A
1 paper
NM_004582.4
p.Q193_I194Splc
c.579+1G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."