Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.Q301R

TBC1D24

251 papers

RefSeq Summary

This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins ...

Pfam Domains

RabGAP-TBCaa 48–255UCSCRab-GTPase-TBC domain
TLDaa 338–453UCSCTLDc domain
TLDaa 479–554UCSCTLDc domain

Gene Aliases

HGNC Name

TBC1 domain family member 24

HGNC Previous Symbol

DFNB86

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001199107.2
p.Q301R
c.902A>G
Surrounding Variants
3 papers
NM_001199107.2
p.Q301*
c.901C>T
1 paper
NM_001199107.2
p.L302R
c.905T>G
1 paper
NM_001199107.2
p.M305V
c.913A>G
1 paper
NM_001199107.2
p.R297H
c.890G>A
6 papers
NM_001199107.2
p.N307H
c.919A>C
6 papers
NM_001199107.2
p.N307D
c.919A>G
4 papers
NM_001199107.2
p.F295L
c.885C>A
4 papers
NM_001199107.2
p.F295L
c.885C>G
4 papers
NM_001199107.2
p.N307S
c.920A>G
4 papers
NM_001199107.2
p.F295L
c.883T>C
1 paper
NM_001199107.2
p.L294P
c.881T>C
4 papers
NM_001199107.2
p.R293H
c.878G>A
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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."