Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D5
Variant:p.L81V

TBC1D5

65 papers

Pfam Domains

RabGAP-TBCaa 84–281UCSCRab-GTPase-TBC domain
RabGAP-TBCaa 287–381UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 5

HGNC Alias Symbol

KIAA0210

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001349074.2
p.L81V
c.241C>G
Surrounding Variants
1 paper
NM_001349074.2
p.K75R
c.224A>G
1 paper
NM_001349074.2
p.R87G
c.259C>G
1 paper
NM_001349074.2
p.Q74K
c.220C>A
1 paper
NM_001349074.2
p.W91S
c.272G>C
1 paper
NM_001349074.2
p.F63Y
c.188T>A
1 paper
NM_001349074.2
p.R56Splc
c.168-1G>T
1 paper
NM_001349074.2
p.L93Q
c.278T>A
1 paper
NM_001349074.2
p.L95F
c.283C>T
2 papers
NM_001349074.2
p.W150*
c.449G>A
2 papers
NM_001349074.2
p.W150*
c.450G>A
2 papers
NM_001349074.2
p.K157N
c.471A>T
2 papers
NM_001349074.2
p.K157N
c.471A>C
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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."