Varaico: Literature-Extracted Genetic Variants

Gene:RABGGTB
Variant:p.E273K

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.E273K
c.817G>A
Surrounding Variants
2 papers
NM_004582.4
p.T275M
c.824C>T
1 paper
NM_004582.4
p.G276R
c.826G>A
1 paper
NM_004582.4
p.G276R
c.826G>C
1 paper
NM_004582.4
p.A269T
c.805G>A
1 paper
NM_004582.4
p.R264C
c.790C>T
1 paper
NM_004582.4
p.N230D
c.688A>G
1 paper
NM_004582.4
p.R222Q
c.665G>A
1 paper
NM_004582.4
p.R222*
c.664C>T
1 paper
NM_004582.4
p.L219F
c.655C>T
1 paper
NM_004582.4
p.S212F
c.635C>T
1 paper
NM_004582.4
p.A202A
c.606A>T
1 paper
NM_004582.4
p.L201V
c.601C>G
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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."