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Results for the Protein: Q5VTJ3
238054405

KLD7A_HUMAN RecName: Full=Kelch domain-containing protein 7A
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14
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13
1
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Default View:

Kelch_1 - pfam01344
Kelch - smart00612


Swiss-Prot Protein: Q5VTJ3
Identical to: NP_689588
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Kelch_1pfam013445.3e-11578619
Kelchsmart006120.00035541589

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs77562571 Polymorphismp.ALA453GLUN/A
dbSNPrs78352167 Polymorphismp.ARG227CYSN/A
dbSNPrs7515150 Polymorphismp.ARG194PRON/A
dbSNPrs11261022 Polymorphismp.ARG160SERN/A
dbSNPrs34109355 Polymorphismp.GLY49ARGN/A
dbSNPrs34976233 Polymorphismp.GLY94SERN/A
dbSNPrs2992753 Polymorphismp.HIS273ASNN/A
dbSNPrs116548488 Polymorphismp.LYS748GLUN/A
dbSNPrs116768119 Polymorphismp.MET524ILEN/A
dbSNPrs2992755 Polymorphismp.PRO141ARGN/A
dbSNPrs2992754 Polymorphismp.PRO155THRN/A
Swiss-ProtVAR_031913Polymorphismp.THR147PRON/A
dbSNPrs2992752 Polymorphismp.THR351PRON/A
dbSNPrs7512414 Polymorphismp.VAL21LEUN/A



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