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Results for the Protein: Q9Y253
59798441

POLH_HUMAN RecName: Full=DNA polymerase eta; AltName: Full=RAD30 homolog A; AltName: Full=Xeroderma pigmentosum variant type protein

Known Diseases associated with this Protein:
  XERODERMA PIGMENTOSUM VARIANT TYPE (XPV)
  XERODERMA PIGMENTOSUM, VARIANT TYPE
11
7
5
0
13
Tips:
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Default View:

PolY_Rev1 - cd01701
DinP - COG0389
PolY_Pol_iota - cd01703
PolY_Pol_IV_kappa - cd03586
PolY_Pol_eta - cd01702
PolY_Pol_V_umuC - cd01700
PolY - cd00424
IMS - pfam00817
IMS_C - pfam11799


Swiss-Prot Protein: Q9Y253
Identical to: NP_006493
   Default View:










Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PolY_Rev1cd017012.2e-103405
DinPCOG03892.4e-517441
PolYcd004243.1e-4810430
PolY_Pol_V_umuCcd017002.1e-0910433
PolY_Pol_etacd017021.2e-22210428
PolY_Pol_iotacd017036.7e-1510428
PolY_Pol_IV_kappacd035866.4e-5110429
IMSpfam008174.6e-5812228
IMS_Cpfam117997.6e-15284423

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_021227Diseasep.ARG111HISXeroderma pigmentosum variant type (XPV)
Swiss-ProtVAR_021232Diseasep.ARG361SERXeroderma pigmentosum variant type (XPV)
Swiss-ProtVAR_021231Polymorphismp.ARG334TRPN/A
Swiss-ProtVAR_036220Polymorphismp.GLY153ASPN/A
Swiss-ProtVAR_021229Polymorphismp.GLY209VALN/A
Swiss-ProtVAR_021230Diseasep.GLY263VALXeroderma pigmentosum variant type (XPV)
Swiss-ProtVAR_021235Polymorphismp.LEU584PRON/A
Swiss-ProtVAR_021234Diseasep.LYS535GLUXeroderma pigmentosum variant type (XPV)
Swiss-ProtVAR_021236Diseasep.LYS589THRXeroderma pigmentosum variant type (XPV)
Swiss-ProtVAR_021238Polymorphismp.MET647LEUN/A
Swiss-ProtVAR_021237Polymorphismp.MET595VALN/A
Swiss-ProtVAR_021233Polymorphismp.THR478METN/A
Swiss-ProtVAR_021228Diseasep.THR122PROXeroderma pigmentosum variant type (XPV)
OMIM603968.0004 Diseasep.GLU306TERXERODERMA PIGMENTOSUM, VARIANT TYPE
OMIM603968.0012 Diseasep.LYS535GLUXERODERMA PIGMENTOSUM, VARIANT TYPE
OMIM603968.0013 Diseasep.LYS589THRXERODERMA PIGMENTOSUM, VARIANT TYPE
OMIM603968.0006 Diseasep.VAL125TERXERODERMA PIGMENTOSUM, VARIANT TYPE
OMIM603968.0007 Diseasep.VAL372TERXERODERMA PIGMENTOSUM, VARIANT TYPE



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