Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.R242H

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.R242H
c.725G>A
Surrounding Variants
22 papers
NM_001199107.2
p.R242C
c.724C>T
3 papers
NM_001199107.2
p.A244T
c.730G>A
4 papers
NM_001199107.2
p.Y241_H252del12
c.721_755del36
7 papers
NM_001199107.2
p.A244V
c.731C>T
5 papers
NM_001199107.2
p.L245P
c.734T>C
1 paper
NM_001199107.2
p.G236S
c.706G>A
20 papers
NM_001199107.2
p.F251L
c.751T>C
19 papers
NM_001199107.2
p.F251L
c.753C>A
19 papers
NM_001199107.2
p.F251L
c.753C>G
1 paper
NM_001199107.2
p.F232_L233insFs
c.696_697ins8
2 papers
NM_001199107.2
p.H252R
c.755A>G
1 paper
NM_001199107.2
p.V231I
c.691G>A
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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."