Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D30

TBC1D30

38 papers

Pfam Domains

RabGAP-TBCaa 3–199UCSCRab-GTPase-TBC domain
RabGAP-TBCaa 252–476UCSCRab-GTPase-TBC domain
DUF4682aa 360–488UCSCDomain of unknown function (DUF4682)

Gene Aliases

HGNC Name

TBC1 domain family member 30

HGNC Alias Symbol

KIAA0984

Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
2 papers
NM_015279.2
p.Q67L
c.200A>T
2 papers
NM_015279.2
p.D75N
c.223G>A
2 papers
NM_015279.2
p.A100A
c.300A>G
2 papers
NM_015279.2
p.H459Y
c.1375C>T
1 paper
NM_015279.2
p.R2W
c.4C>T
1 paper
NM_015279.2
p.R116C
c.346C>T
1 paper
NM_015279.2
p.R155K
c.464G>A
1 paper
NM_015279.2
p.L186V
c.556C>G
1 paper
NM_015279.2
p.G194R
c.580G>A
1 paper
NM_015279.2
p.G194R
c.580G>C
1 paper
NM_015279.2
p.L230I
c.688C>A
1 paper
NM_015279.2
p.R232I
c.695G>T
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