Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D5
Variant:p.I718V

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
3 papers
NM_001349074.2
p.I718V
c.2152A>G
Surrounding Variants
1 paper
NM_001349074.2
p.S711N
c.2132G>A
1 paper
NM_001349074.2
p.Q704*
c.2110C>T
1 paper
NM_001349074.2
p.E688K
c.2062G>A
1 paper
NM_001349074.2
p.I667M
c.2001C>G
1 paper
NM_001349074.2
p.V640L
c.1918G>T
1 paper
NM_001349074.2
p.V640L
c.1918G>C
1 paper
NM_014744.2
p.L717P
c.2150T>C
1 paper
NM_001349074.2
p.S752S
c.2256C>A
1 paper
NM_001349074.2
p.D800G
c.2399A>G
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