Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.E283K

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
1 paper
NM_001199107.2
p.E283K
c.847G>A
Surrounding Variants
9 papers
NM_001199107.2
p.P282R
c.845C>G
1 paper
NM_001199107.2
p.P282delFs
c.846delT
1 paper
NM_001199107.2
p.V280G
c.839T>G
1 paper
NM_001199107.2
p.V280L
c.838G>C
1 paper
NM_001199107.2
p.L286P
c.857T>C
1 paper
NM_001199107.2
p.E287K
c.859G>A
1 paper
NM_001199107.2
p.A277V
c.830C>T
2 papers
NM_001199107.2
p.A289V
c.866C>T
2 papers
NM_001199107.2
p.I276T
c.827T>C
2 papers
NM_001199107.2
p.A291T
c.871G>A
1 paper
NM_001199107.2
p.R274del1
c.820_821delAGA
8 papers
NM_001199107.2
p.R293C
c.877C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."