Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D30
Variant:p.Q494H

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.Q494H
c.1482G>C
Surrounding Variants
1 paper
NM_015279.2
p.Q494H
c.1482G>T
1 paper
NM_015279.2
p.R483Q
c.1448G>A
2 papers
NM_015279.2
p.H459Y
c.1375C>T
1 paper
NM_015279.2
p.G384Splc
c.1152-7T>A
1 paper
NM_015279.2
p.H540Y
c.1618C>T
1 paper
NM_015279.2
p.G547G
c.1641G>A
1 paper
NM_015279.2
p.V552I
c.1654G>A
1 paper
NM_015279.2
p.P583L
c.1748C>T
1 paper
NM_015279.2
p.V589I
c.1765G>A
1 paper
NM_015279.2
p.S599R
c.1795A>C
1 paper
NM_015279.2
p.S599R
c.1797C>A
1 paper
NM_015279.2
p.S599R
c.1797C>G
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."