Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D14

TBC1D14

38 papers

Pfam Domains

RabGAP-TBCaa 404–631UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 14

HGNC Alias Symbol

KIAA1322

Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
3 papers
NM_020773.3
p.L180V
c.538C>G
2 papers
NM_020773.3
p.L41V
c.121C>G
2 papers
NM_020773.3
p.I466T
c.1397T>C
1 paper
NM_020773.3
p.G12D
c.35G>A
1 paper
NM_020773.3
p.V13I
c.37G>A
1 paper
NM_020773.3
p.N34I
c.101A>T
1 paper
NM_020773.3
p.N34K
c.102T>A
1 paper
NM_020773.3
p.P38L
c.113C>T
1 paper
NM_020773.3
p.P48S
c.142C>T
1 paper
NM_020773.3
p.E56delins
c.166_167delinsAT
1 paper
NM_020773.3
p.H85H
c.255C>T
1 paper
NM_020773.3
p.S91S
c.273C>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."