Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D23
Variant:p.E450D

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.E450D
c.1350A>T
Surrounding Variants
1 paper
NM_001199198.3
p.E450D
c.1350A>C
1 paper
NM_001199198.3
p.E425K
c.1273G>A
1 paper
NM_001199198.3
p.G472S
c.1414G>A
4 papers
NM_001199198.3
p.V492delFs
c.1475_1476delTG
1 paper
NM_001199198.3
p.V492del1
c.1474_1475delGTG
2 papers
NM_001199198.3
p.V492fs
c.1474_1475fs
1 paper
NM_001199198.3
p.I509fs
c.1525_1526fs
1 paper
NM_001199198.3
p.I509Fs
c.1526delinsAAFs
1 paper
NM_001199198.3
p.S513fs
c.1537_1538fs
1 paper
NM_001199198.3
p.T514A
c.1540A>G
2 papers
NM_001199198.3
p.R518Q
c.1553G>A
1 paper
NM_001199198.3
p.Q421_K422Splc
c.1263+1G>A
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