Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.H143delFs

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.H143delFs
c.429delC
Surrounding Variants
2 papers
NM_001199107.2
p.Y144fs
c.430_431fs
2 papers
NM_001199107.2
p.Y144C
c.431A>G
1 paper
NM_001199107.2
p.Y144*
c.432C>A
1 paper
NM_001199107.2
p.Y144*
c.432C>G
4 papers
NM_001199107.2
p.L140V
c.418C>G
1 paper
NM_001199107.2
p.D147N
c.439G>A
21 papers
NM_001199107.2
p.D147H
c.439G>C
1 paper
NM_001199107.2
p.D147E
c.441C>A
1 paper
NM_001199107.2
p.D147E
c.441C>G
1 paper
NM_001199107.2
p.A139T
c.415G>A
9 papers
NM_001199107.2
p.E148K
c.442G>A
2 papers
NM_001199107.2
p.E148*
c.442G>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."