Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.C191G

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.C191G
c.571T>G
Surrounding Variants
1 paper
NM_001199107.2
p.C191_Q192insCC
c.571_575ins6
1 paper
NM_001199107.2
p.C191_M198del0
c.572_592del21
1 paper
NM_001199107.2
p.N188S
c.563A>G
1 paper
NM_001199107.2
p.D185V
c.554A>T
3 papers
NM_001199107.2
p.D185N
c.553G>A
6 papers
NM_001199107.2
p.T182M
c.545C>T
3 papers
NM_001199107.2
p.T182delFs
c.545delC
4 papers
NM_001199107.2
p.T182fs
c.544_545fs
2 papers
NM_001199107.2
p.V201M
c.601G>A
1 paper
NM_001199107.2
p.C180delFs
c.539delG
1 paper
NM_001199107.2
p.C180fs
c.538_539fs
4 papers
NM_001199107.2
p.S202L
c.605C>T
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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."