Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D23
Variant:p.F171delFs

TBC1D23

53 papers

Pfam Domains

RabGAP-TBCaa 47–246UCSCRab-GTPase-TBC domain
Rhodaneseaa 322–440UCSCRhodanese-like domain
TBC1D23_Caa 451–676UCSCTBC1 domain family member 23 C-terminal

Gene Aliases

HGNC Name

TBC1 domain family member 23

HGNC Alias Symbol

FLJ11046

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001199198.3
p.F171delFs
c.511_512delTT
Surrounding Variants
1 paper
NM_001199198.3
p.F171fs
c.511_512fs
1 paper
NM_001199198.3
p.E179K
c.535G>A
1 paper
NM_001199198.3
p.D194A
c.581A>C
1 paper
NM_001199198.3
p.I236_N240del5
c.706_719del15
1 paper
NM_001199198.3
p.Q248delFs
c.743_744delAA
1 paper
NM_001199198.3
p.E255V
c.764A>T
1 paper
NM_001199198.3
p.Q280H
c.840G>C
1 paper
NM_001199198.3
p.Q280H
c.840G>T
1 paper
NM_001199198.3
p.C283fs
c.847_848fs
1 paper
NM_001199198.3
p.P287Q
c.860C>A
2 papers
NM_001199198.3
p.K292_D293Splc
c.876+1G>C
1 paper
NM_001199198.3
p.M153T
c.458T>C
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