Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.W212*

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.W212*
c.636G>A
Surrounding Variants
1 paper
NM_001199107.2
p.W212*
c.635G>A
1 paper
NM_001199107.2
p.R214C
c.640C>T
21 papers
NM_001199107.2
p.R214H
c.641G>A
1 paper
NM_001199107.2
p.A210V
c.629C>T
2 papers
NM_001199107.2
p.W215G
c.643T>G
1 paper
NM_001199107.2
p.L216P
c.647T>C
8 papers
NM_001199107.2
p.Q207*
c.619C>T
1 paper
NM_001199107.2
p.P221P
c.663C>T
1 paper
NM_001199107.2
p.E203K
c.607G>A
2 papers
NM_001199107.2
p.L222P
c.665T>C
4 papers
NM_001199107.2
p.S202L
c.605C>T
2 papers
NM_001199107.2
p.V201M
c.601G>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."