Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.S473fs

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
4 papers
NM_001199107.2
p.S473fs
c.1417_1418fs
Surrounding Variants
1 paper
NM_001199107.2
p.A471T
c.1411G>A
2 papers
NM_001199107.2
p.S472_L479delFs
c.1416_1437del22
1 paper
NM_001199107.2
p.A476D
c.1427C>A
1 paper
NM_001199107.2
p.D477D
c.1431C>T
1 paper
NM_001199107.2
p.E462K
c.1384G>A
3 papers
NM_001199107.2
p.E462fs
c.1384_1385fs
2 papers
NM_001199107.2
p.E462delFs
c.1384delG
1 paper
NM_001199107.2
p.A461T
c.1381G>A
1 paper
NM_001199107.2
p.A485T
c.1453G>A
1 paper
NM_001199107.2
p.R486H
c.1457G>A
5 papers
NM_001199107.2
p.H487insFs
c.1460dupA
3 papers
NM_001199107.2
p.H487Y
c.1459C>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."