Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24

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
1–12 of 338 variants
26 papers
NM_001199107.2
p.E153K
c.457G>A
22 papers
NM_001199107.2
p.F229S
c.686T>C
22 papers
NM_001199107.2
p.R242C
c.724C>T
21 papers
NM_001199107.2
p.D147H
c.439G>C
21 papers
NM_001199107.2
p.C156*
c.468C>A
21 papers
NM_001199107.2
p.S178L
c.533C>T
21 papers
NM_001199107.2
p.R214H
c.641G>A
20 papers
NM_001199107.2
p.F251L
c.751T>C
19 papers
NM_001199107.2
p.F251L
c.753C>A
19 papers
NM_001199107.2
p.F251L
c.753C>G
18 papers
NM_001199107.2
p.A500V
c.1499C>T
17 papers
NM_001199107.2
p.D70Y
c.208G>T
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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."