Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.H487Q

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
3 papers
NM_001199107.2
p.H487Q
c.1461C>G
Surrounding Variants
3 papers
NM_001199107.2
p.H487Q
c.1461C>A
3 papers
NM_001199107.2
p.H487L
c.1460A>T
5 papers
NM_001199107.2
p.H487insFs
c.1460dupA
3 papers
NM_001199107.2
p.H487Y
c.1459C>T
10 papers
NM_001199107.2
p.H487fs
c.1459_1460fs
1 paper
NM_001199107.2
p.R486H
c.1457G>A
1 paper
NM_001199107.2
p.A485T
c.1453G>A
1 paper
NM_001199107.2
p.E495K
c.1483G>A
1 paper
NM_001199107.2
p.M497_F498insA
c.1489_1493ins3
1 paper
NM_001199107.2
p.M497T
c.1490T>C
1 paper
NM_001199107.2
p.D477D
c.1431C>T
1 paper
NM_001199107.2
p.F498F
c.1494C>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."