Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D30
Variant:p.G194R

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
Selected Variant
1 paper
NM_015279.2
p.G194R
c.580G>C
Surrounding Variants
1 paper
NM_015279.2
p.G194R
c.580G>A
1 paper
NM_015279.2
p.L186V
c.556C>G
1 paper
NM_015279.2
p.R155K
c.464G>A
1 paper
NM_015279.2
p.R116C
c.346C>T
2 papers
NM_015279.2
p.A100A
c.300A>G
2 papers
NM_015279.2
p.D75N
c.223G>A
1 paper
NM_015279.2
p.L230I
c.688C>A
1 paper
NM_015279.2
p.R232I
c.695G>T
1 paper
NM_015279.2
p.D243Y
c.727G>T
2 papers
NM_015279.2
p.Q67L
c.200A>T
1 paper
NM_015279.2
p.Y257C
c.770A>G
1 paper
NM_015279.2
p.T282T
c.846C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."