Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D14
Variant:p.S116delins

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.S116delins
c.346_347delinsAT
Surrounding Variants
1 paper
NM_020773.3
p.P113S
c.337C>T
1 paper
NM_020773.3
p.P112L
c.335C>T
1 paper
NM_020773.3
p.A111V
c.332C>T
1 paper
NM_020773.3
p.S91S
c.273C>T
1 paper
NM_020773.3
p.K146R
c.437A>G
1 paper
NM_020773.3
p.H85H
c.255C>T
1 paper
NM_020773.3
p.S155F
c.464C>T
1 paper
NM_020773.3
p.T168T
c.504C>T
1 paper
NM_020773.3
p.E56delins
c.166_167delinsAT
3 papers
NM_020773.3
p.L180V
c.538C>G
1 paper
NM_020773.3
p.P48S
c.142C>T
2 papers
NM_020773.3
p.L41V
c.121C>G
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