Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D14
Variant:p.V507F

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
Selected Variant
1 paper
NM_020773.3
p.V507F
c.1519G>T
Surrounding Variants
1 paper
NM_020773.3
p.M540T
c.1619T>C
1 paper
NM_020773.3
p.F560L
c.1678T>C
1 paper
NM_020773.3
p.F560L
c.1680C>A
1 paper
NM_020773.3
p.F560L
c.1680C>G
1 paper
NM_020773.3
p.Q482_G483Splc
c.1446+42A>G
2 papers
NM_020773.3
p.I466T
c.1397T>C
1 paper
NM_020773.3
p.A452fs
c.1354_1355fs
1 paper
NM_020773.3
p.N449S
c.1346A>G
1 paper
NM_001113363.2
p.R127*
c.379A>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."