Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.S28del1

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.S28del1
c.82_84delAGC
Surrounding Variants
2 papers
NM_001199107.2
p.L27_S28delFs
c.81_84del4
1 paper
NM_001199107.2
p.E26V
c.77A>T
2 papers
NM_001199107.2
p.E26*
c.76G>T
1 paper
NM_001199107.2
p.E26_L27delFs
c.77_80del4
1 paper
NM_001199107.2
p.P24P
c.72C>T
7 papers
NM_001199107.2
p.Q20E
c.58C>G
6 papers
NM_001199107.2
p.Q20*
c.58C>T
1 paper
NM_001199107.2
p.I19insFs
c.57dupC
3 papers
NM_001199107.2
p.A39P
c.115G>C
11 papers
NM_001199107.2
p.A39V
c.116C>T
15 papers
NM_001199107.2
p.R40C
c.118C>T
4 papers
NM_001199107.2
p.R40H
c.119G>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."