Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D23
Variant:p.T683S

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.T683S
c.2047A>T
Surrounding Variants
1 paper
NM_001199198.3
p.T683S
c.2048C>G
1 paper
NM_001199198.3
p.L669S
c.2006T>C
1 paper
NM_001199198.3
p.K647fs
c.1939_1940fs
1 paper
NM_001199198.3
p.K647insFs
c.1939dupA
1 paper
NM_001199198.3
p.K647delFs
c.1939delA
1 paper
NM_001199198.3
p.S646fs
c.1936_1937fs
1 paper
NM_001199198.3
p.R635*
c.1903C>T
2 papers
NM_001199198.3
p.Y631_I632insFs
c.1893_1894insA
1 paper
NM_018309.5
p.E562fs
c.1684_1685fs
1 paper
NM_018309.5
p.K561delFs
c.1683delA
2 papers
NM_001199198.3
p.D563fs
c.1687_1688fs
2 papers
NM_001199198.3
p.D563Splc
c.1687+2T>A
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