Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.K266N

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
7 papers
NM_001199107.2
p.K266N
c.798G>C
Surrounding Variants
7 papers
NM_001199107.2
p.K266N
c.798G>T
1 paper
NM_001199107.2
p.I269V
c.805A>G
2 papers
NM_001199107.2
p.R270C
c.808C>T
10 papers
NM_001199107.2
p.R270H
c.809G>A
2 papers
NM_001199107.2
p.S262L
c.785C>T
1 paper
NM_001199107.2
p.T271_F272delFs
c.813_814delGT
1 paper
NM_001199107.2
p.R274del1
c.820_821delAGA
2 papers
NM_001199107.2
p.I276T
c.827T>C
1 paper
NM_001199107.2
p.A277V
c.830C>T
1 paper
NM_001199107.2
p.V280L
c.838G>C
1 paper
NM_001199107.2
p.V280G
c.839T>G
2 papers
NM_001199107.2
p.H252R
c.755A>G
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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."