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Results for the Protein: Q86YC2
74727919

PALB2_HUMAN RecName: Full=Partner and localizer of BRCA2

Known Diseases associated with this Protein:
  BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED
  FANCONI ANEMIA, COMPLEMENTATION GROUP N
3
28
3
2
26
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Swiss-Prot Protein: Q86YC2
Identical to: NP_078951
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_066378Polymorphismp.ALA1025THRN/A
Swiss-ProtVAR_066367Polymorphismp.ALA491THRN/A
Swiss-ProtVAR_066371Polymorphismp.ALA712VALN/A
Swiss-ProtVAR_066365Polymorphismp.ARG414GLNN/A
Swiss-ProtVAR_066362Polymorphismp.ASP219GLYN/A
Swiss-ProtVAR_066369Polymorphismp.GLN559ARGN/A
Swiss-ProtVAR_066382Polymorphismp.GLN1114HISN/A
dbSNPrs152451 Polymorphismp.GLN559LEUN/A
Swiss-ProtVAR_066370Polymorphismp.GLU672GLNN/A
Swiss-ProtVAR_066379Polymorphismp.GLY1043ALAN/A
Swiss-ProtVAR_066377Polymorphismp.GLY998GLUN/A
Swiss-ProtVAR_066384Polymorphismp.HIS1170TYRN/A
Swiss-ProtVAR_066361Polymorphismp.HIS46TYRN/A
Swiss-ProtVAR_032959Polymorphismp.ILE309VALN/A
Swiss-ProtVAR_066376Polymorphismp.ILE966VALN/A
Swiss-ProtVAR_066383Polymorphismp.LEU1143PRON/A
Swiss-ProtVAR_066364Polymorphismp.LEU337SERN/A
Swiss-ProtVAR_066375Polymorphismp.LEU939TRPN/A
Swiss-ProtVAR_066368Polymorphismp.LYS515ARGN/A
Swiss-ProtVAR_066372Polymorphismp.PHE728LEUN/A
dbSNPrs57605939 Polymorphismp.PRO210LEUN/A
Swiss-ProtVAR_054150Polymorphismp.PRO864SERN/A
Swiss-ProtVAR_066380Polymorphismp.SER1075GLYN/A
Swiss-ProtVAR_066363Polymorphismp.TYR334CYSN/A
Swiss-ProtVAR_066381Polymorphismp.VAL1105ALAN/A
Swiss-ProtVAR_066373Polymorphismp.VAL917ALAN/A
Swiss-ProtVAR_066366Polymorphismp.VAL425METN/A
Swiss-ProtVAR_066374Polymorphismp.VAL932METN/A
OMIM610355.0004 Diseasep.GLN988TERFANCONI ANEMIA, COMPLEMENTATION GROUP N||BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED
OMIM610355.0003 Diseasep.TYR1183TERFANCONI ANEMIA, COMPLEMENTATION GROUP N||BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED
OMIM610355.0001 Diseasep.TYR551TERFANCONI ANEMIA, COMPLEMENTATION GROUP N



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