Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D2B
Variant:p.Y53*

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
Selected Variant
2 papers
NM_144572.2
p.Y53*
c.159C>A
Surrounding Variants
2 papers
NM_144572.2
p.Y53*
c.159C>G
1 paper
NM_144572.2
p.F60F
c.180C>T
1 paper
NM_144572.2
p.A62V
c.185C>T
1 paper
NM_144572.2
p.R63C
c.187C>T
1 paper
NM_144572.2
p.P26L
c.77C>T
1 paper
NM_144572.2
p.L82*
c.245T>A
2 papers
NM_144572.2
p.Q92*
c.274C>T
1 paper
NM_144572.2
p.G13fs
c.37_38fs
1 paper
NM_144572.2
p.G13D
c.38G>A
1 paper
NM_144572.2
p.G13C
c.37G>T
2 papers
NM_144572.2
p.E9*
c.25G>T
6 papers
NM_144572.2
p.A8G
c.23C>G
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