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Results for the Protein: O95759
262527569

TBCD8_HUMAN RecName: Full=TBC1 domain family member 8; AltName: Full=AD 3; AltName: Full=Vascular Rab-GAP/TBC-containing protein
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Default View:

GRAM - smart00568
GRAM - pfam02893
COG5210 - COG5210
TBC - smart00164
RabGAP-TBC - pfam00566


Swiss-Prot Protein: O95759
Identical to: NP_001095896
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GRAMpfam028931.8e-19153212
COG5210COG52101.4e-43288796
GRAMpfam028936.1e-17293353
RabGAP-TBCpfam005662.1e-57508712
GRAMsmart005687.7e-19152212
GRAMsmart005689.3e-17292353
TBCsmart001644.6e-47502694

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs114414274 Polymorphismp.ALA156VALN/A
dbSNPrs746924 Polymorphismp.ARG1079GLYN/A
dbSNPrs1062062 Polymorphismp.GLY954ARGN/A
dbSNPrs3739011 Polymorphismp.MET1108VALN/A
Swiss-ProtVAR_060542Polymorphismp.PHE1073LEUN/A
dbSNPrs2289953 Polymorphismp.THR317ALAN/A



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