Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.R51Q

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
2 papers
NM_001199107.2
p.R51Q
c.152G>A
Surrounding Variants
3 papers
NM_001199107.2
p.R51W
c.151C>T
1 paper
NM_001199107.2
p.K53delFs
c.158delA
2 papers
NM_001199107.2
p.H48Q
c.144C>A
2 papers
NM_001199107.2
p.H48Q
c.144C>G
3 papers
NM_001199107.2
p.S47G
c.139A>G
5 papers
NM_001199107.2
p.R57C
c.169C>T
1 paper
NM_001199107.2
p.R57H
c.170G>A
1 paper
NM_001199107.2
p.L58delFs
c.172delC
1 paper
NM_001199107.2
p.W44*
c.132G>A
1 paper
NM_001199107.2
p.W44*
c.131G>A
1 paper
NM_001199107.2
p.R60W
c.178C>T
3 papers
NM_001199107.2
p.R60Q
c.179G>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."