Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.L159delFs

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.L159delFs
c.475delC
Surrounding Variants
2 papers
NM_001199107.2
p.L159fs
c.475_476fs
4 papers
NM_001199107.2
p.L159P
c.476T>C
2 papers
NM_001199107.2
p.R157C
c.469C>T
21 papers
NM_001199107.2
p.C156*
c.468C>A
1 paper
NM_001199107.2
p.C161*
c.483C>A
2 papers
NM_001199107.2
p.N162D
c.484A>G
26 papers
NM_001199107.2
p.E153K
c.457G>A
4 papers
NM_001199107.2
p.E153*
c.457G>T
1 paper
NM_001199107.2
p.G165S
c.493G>A
1 paper
NM_001199107.2
p.R166insFs
c.497_498insA
2 papers
NM_001199107.2
p.A149A
c.447C>T
1 paper
NM_001199107.2
p.A149V
c.446C>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."