Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.V78L

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.V78L
c.232G>T
Surrounding Variants
1 paper
NM_001199107.2
p.V78M
c.232G>A
10 papers
NM_001199107.2
p.I77_K80del0
c.229_240del12
1 paper
NM_001199107.2
p.I81I
c.243C>T
1 paper
NM_001199107.2
p.V82_K84del3
c.244_251del9
1 paper
NM_001199107.2
p.V82L
c.244G>C
1 paper
NM_001199107.2
p.V82L
c.244G>T
1 paper
NM_001199107.2
p.V73M
c.217G>A
1 paper
NM_001199107.2
p.G83G
c.249C>T
1 paper
NM_001199107.2
p.K84T
c.251A>C
1 paper
NM_001199107.2
p.D70D
c.210C>T
17 papers
NM_001199107.2
p.D70Y
c.208G>T
1 paper
NM_001199107.2
p.S86N
c.257G>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."