Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.D70D

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.D70D
c.210C>T
Surrounding Variants
17 papers
NM_001199107.2
p.D70Y
c.208G>T
1 paper
NM_001199107.2
p.V73M
c.217G>A
2 papers
NM_001199107.2
p.V67fs
c.199_200fs
1 paper
NM_001199107.2
p.T66M
c.197C>T
2 papers
NM_001199107.2
p.R65H
c.194G>A
5 papers
NM_001199107.2
p.R65L
c.194G>T
1 paper
NM_001199107.2
p.R65fs
c.193_194fs
10 papers
NM_001199107.2
p.I77_K80del0
c.229_240del12
1 paper
NM_001199107.2
p.C64insFs
c.191_192insCC
1 paper
NM_001199107.2
p.V78M
c.232G>A
1 paper
NM_001199107.2
p.V78L
c.232G>T
3 papers
NM_001199107.2
p.R60Q
c.179G>A
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