Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D2B

TBC1D2B

52 papers

Pfam Domains

PHaa 35–137UCSCPH domain
RabGAP-TBCaa 665–876UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 2B

HGNC Alias Symbol

KIAA1055

Papers
RefSeq ID
Protein change
DNA change
1–12 of 71 variants
6 papers
NM_144572.2
p.A8G
c.23C>G
4 papers
NM_144572.2
p.C142insFs
c.426dupT
4 papers
NM_144572.2
p.L220fs
c.658_659fs
4 papers
NM_144572.2
p.L220delFs
c.658_659delAA
4 papers
NM_144572.2
p.Q494*
c.1480C>T
4 papers
NM_144572.2
p.L658_I659del2
c.1972_1976del6
4 papers
NM_144572.2
p.L793*
c.2378T>G
4 papers
NM_144572.2
p.L793*
c.2378T>A
3 papers
NM_144572.2
p.V199fs
c.595_596fs
3 papers
NM_144572.2
p.V199delFs
c.595delC
3 papers
NM_144572.2
p.Y765*
c.2295C>G
3 papers
NM_144572.2
p.Y765*
c.2295C>A
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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."