Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.A122P

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.A122P
c.364G>C
Surrounding Variants
1 paper
NM_001199107.2
p.Q124K
c.370C>A
1 paper
NM_001199107.2
p.D127N
c.379G>A
1 paper
NM_001199107.2
p.R115R
c.345C>T
1 paper
NM_001199107.2
p.I128N
c.383T>A
1 paper
NM_001199107.2
p.R115H
c.344G>A
1 paper
NM_001199107.2
p.R115L
c.344G>T
2 papers
NM_001199107.2
p.R115C
c.343C>T
1 paper
NM_001199107.2
p.V114M
c.340G>A
5 papers
NM_001199107.2
p.A113D
c.338C>A
1 paper
NM_001199107.2
p.C131G
c.391T>G
1 paper
NM_001199107.2
p.P132S
c.394C>T
1 paper
NM_001199107.2
p.P132R
c.395C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."