Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.P4Fs

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.P4Fs
c.11delinsGCCCAFs
Surrounding Variants
1 paper
NM_001199107.2
p.N7S
c.20A>G
5 papers
NM_001199107.2
p.C8R
c.22T>C
1 paper
NM_001199107.2
p.V10A
c.29T>C
14 papers
NM_001199107.2
p.D11G
c.32A>G
1 paper
NM_001199107.2
p.K14_A18delFs
c.42_52del11
1 paper
NM_001199107.2
p.I19insFs
c.57dupC
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.P24P
c.72C>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.E26V
c.77A>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."