Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.L222P

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
2 papers
NM_001199107.2
p.L222P
c.665T>C
Surrounding Variants
1 paper
NM_001199107.2
p.P221P
c.663C>T
1 paper
NM_001199107.2
p.Y224*
c.672C>G
2 papers
NM_001199107.2
p.R227G
c.679C>G
8 papers
NM_001199107.2
p.R227W
c.679C>T
4 papers
NM_001199107.2
p.R227Q
c.680G>A
4 papers
NM_001199107.2
p.R227L
c.680G>T
1 paper
NM_001199107.2
p.L216P
c.647T>C
3 papers
NM_001199107.2
p.F229_L240del12
c.685_719del36
1 paper
NM_001199107.2
p.F229Y
c.686T>A
22 papers
NM_001199107.2
p.F229S
c.686T>C
2 papers
NM_001199107.2
p.W215G
c.643T>G
21 papers
NM_001199107.2
p.R214H
c.641G>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."