Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D5

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
1–12 of 65 variants
3 papers
NM_001349074.2
p.Y375C
c.1124A>G
3 papers
NM_001349074.2
p.I718V
c.2152A>G
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
2 papers
NM_001349074.2
p.M518I
c.1554G>T
2 papers
NM_001349074.2
p.M518I
c.1554G>C
2 papers
NM_001349074.2
p.M518I
c.1554G>A
1 paper
NM_001349074.2
p.M1insFs
c.1_2ins10
1 paper
NM_001349074.2
p.E7K
c.19G>A
1 paper
NM_001349074.2
p.T8S
c.22A>T
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