Varaico: Literature-Extracted Genetic Variants

Gene:RABGGTB
Variant:p.Q193_I194Splc

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.Q193_I194Splc
c.579+1G>T
Surrounding Variants
1 paper
NM_004582.4
p.G179S
c.535G>A
1 paper
NM_004582.4
p.I168I
c.504C>T
1 paper
NM_004582.4
p.E165K
c.493G>A
1 paper
NM_004582.4
p.I162T
c.485T>C
1 paper
NM_004582.4
p.L156S
c.467T>C
1 paper
NM_004582.4
p.L153S
c.458T>C
1 paper
NM_004582.4
p.F200del1
c.598_599delTTT
1 paper
NM_004582.4
p.L201V
c.601C>G
1 paper
NM_004582.4
p.A202A
c.606A>T
1 paper
NM_004582.4
p.S212F
c.635C>T
1 paper
NM_004582.4
p.L219F
c.655C>T
1 paper
NM_004582.4
p.R222*
c.664C>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."