Varaico: Literature-Extracted Genetic Variants

Gene:RABGGTB
Variant:p.T17del1

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.T17del1
c.49_51delACT
Surrounding Variants
1 paper
NM_004582.4
p.A14T
c.40G>A
1 paper
NM_004582.4
p.V8F
c.22G>T
1 paper
NM_004582.4
p.K6delFs
c.17delA
1 paper
NM_004582.4
p.Q5L
c.14A>T
1 paper
NM_004582.4
p.Y37_E38Splc
c.111+6T>C
1 paper
NM_004582.4
p.M1_G2Splc
c.4-89A>G
1 paper
NM_004582.4
p.S42_E43delFs
c.124_127del4
1 paper
NM_004582.4
p.G49_Y51del3
c.145_152del9
1 paper
NM_004582.4
p.H94delFs
c.282delT
1 paper
NM_004582.4
p.A101V
c.302C>T
1 paper
NM_004582.4
p.L107L
c.321G>T
1 paper
NM_004582.4
p.D136insFs
c.406_407insT
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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."