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Results for the Protein: Q9UF02
20532390

CCG5_HUMAN RecName: Full=Voltage-dependent calcium channel gamma-5 subunit; AltName: Full=Neuronal voltage-gated calcium channel gamma-5 subunit; AltName: Full=Transmembrane AMPAR regulatory protein gamma-5; Short=TARP gamma-5
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Default View:

PMP22_Claudin - pfam00822
SUR7 - pfam06687


Swiss-Prot Protein: Q9UF02
Identical to: NP_665810
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PMP22_Claudinpfam008221.8e-127196
SUR7pfam066870.000499188

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs149774604 Polymorphismp.ALA206VALN/A
dbSNPrs145536558 Polymorphismp.ARG218HISN/A
dbSNPrs138881080 Polymorphismp.ARG98HISN/A
dbSNPrs141219015 Polymorphismp.ARG60TRPN/A
dbSNPrs146501310 Polymorphismp.ASN92SERN/A
dbSNPrs145737408 Polymorphismp.GLU207LYSN/A
dbSNPrs149430161 Polymorphismp.GLY5ARGN/A
dbSNPrs41280112 Polymorphismp.HIS233TYRN/A
dbSNPrs143315434 Polymorphismp.ILE156PHEN/A
dbSNPrs149159754 Polymorphismp.THR128LYSN/A
dbSNPrs150770823 Polymorphismp.VAL61PHEN/A



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