Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D23
Variant:p.E396K

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.E396K
c.1186G>A
Surrounding Variants
1 paper
NM_001199198.3
p.C399S
c.1195T>A
1 paper
NM_001199198.3
p.C399S
c.1196G>C
1 paper
NM_001199198.3
p.E406G
c.1217A>G
1 paper
NM_001199198.3
p.A417T
c.1249G>A
1 paper
NM_001199198.3
p.Q421R
c.1262A>G
1 paper
NM_001199198.3
p.Q421_K422Splc
c.1263+1G>A
1 paper
NM_001199198.3
p.E425K
c.1273G>A
1 paper
NM_001199198.3
p.R344H
c.1031G>A
1 paper
NM_001199198.3
p.R344L
c.1031G>T
1 paper
NM_001199198.3
p.Q330L
c.989A>T
1 paper
NM_001199198.3
p.H295R
c.884A>G
1 paper
NM_001199198.3
p.E450D
c.1350A>C
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