Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D2B
Variant:p.Y765*

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
3 papers
NM_144572.2
p.Y765*
c.2295C>G
Surrounding Variants
3 papers
NM_144572.2
p.Y765*
c.2295C>A
1 paper
NM_144572.2
p.A760T
c.2278G>A
1 paper
NM_144572.2
p.F782F
c.2346C>T
2 papers
NM_144572.2
p.R785*
c.2353C>T
1 paper
NM_144572.2
p.R785Q
c.2354G>A
4 papers
NM_144572.2
p.L793*
c.2378T>G
4 papers
NM_144572.2
p.L793*
c.2378T>A
1 paper
NM_144572.2
p.Q796_V797Splc
c.2388+1G>A
1 paper
NM_144572.2
p.S743F
c.2228C>T
1 paper
NM_144572.2
p.R736C
c.2206C>T
1 paper
NM_144572.2
p.D713N
c.2137G>A
1 paper
NM_144572.2
p.Q709H
c.2127G>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."