Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.V445insFs

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.V445insFs
c.1333dupG
Surrounding Variants
1 paper
NM_001199107.2
p.E443K
c.1327G>A
5 papers
NM_001199107.2
p.V445fs
c.1333_1334fs
NM_020705.3
p.V439fs
c.1315_1316fs
1 paper
NM_020705.3
p.V439insFs
c.1316_1317insG
1 paper
NM_001199107.2
p.R441C
c.1321C>T
3 papers
NM_001199107.2
p.V439insFs
c.1316_1317insG
1 paper
NM_001199107.2
p.H449_P450ins1
c.1347_1348insAAC
1 paper
NM_001199107.2
p.V439delFs
c.1316delT
2 papers
NM_001199107.2
p.V439fs
c.1315_1316fs
1 paper
NM_020705.3
p.E445insFs
c.1333dupG
1 paper
NM_001199107.2
p.R434_L435Splc
c.1303-2A>C
1 paper
NM_001199107.2
p.K454R
c.1361A>G
1 paper
NM_001199107.2
p.P455T
c.1363C>A
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."