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Results for the Protein: NP_001185480
309951097
WT1

Wilms tumor protein isoform E [Homo sapiens]

Known Diseases associated with this Protein:
  DENYS-DRASH SYNDROME
  FRASIER SYNDROME
  MEACHAM SYNDROME
  MEACHAM SYNDROME, INCLUDED;;
  MESOTHELIOMA, SOMATIC
  NEPHROTIC SYNDROME TYPE 4, INCLUDED
  NEPHROTIC SYNDROME, TYPE 4
  NEPHROTIC SYNDROME, TYPE 4, INCLUDED
  WILMS TUMOR 1, INCLUDED
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Tips:
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Default View:

WT1 - pfam02165
zf-C2H2 - pfam00096
ZnF_C2H2 - smart00355




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
zf-C2H2pfam000960.00092179203
zf-C2H2pfam000963.6e-07209233
zf-C2H2pfam000962.2e-05239261
zf-C2H2pfam000965.5e-05267291
ZnF_C2H2smart003556.5e-06209233
ZnF_C2H2smart003550.00069239261
ZnF_C2H2smart003550.00065267291

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM607102.0026 Diseasep.ARG154CYSMEACHAM SYNDROME
OMIM607102.0004 Diseasep.ARG154HISDENYS-DRASH SYNDROME
OMIM607102.0007 Diseasep.ARG182PRODENYS-DRASH SYNDROME
OMIM607102.0014 Diseasep.ARG150TERDENYS-DRASH SYNDROME||WILMS TUMOR 1, INCLUDED
OMIM607102.0010 607102.0024 Diseasep.ARG178TERFRASIER SYNDROME
OMIM607102.0003 Diseasep.ARG182TRPDENYS-DRASH SYNDROME||MEACHAM SYNDROME, INCLUDED;;||NEPHROTIC SYNDROME TYPE 4, INCLUDED
OMIM607102.0006 Diseasep.ASP184ASNDENYS-DRASH SYNDROME||NEPHROTIC SYNDROME, TYPE 4, INCLUDED
OMIM607102.0005 Diseasep.ASP184GLYDENYS-DRASH SYNDROME
OMIM607102.0013 Diseasep.CYS148GLYDENYS-DRASH SYNDROME
OMIM607102.0008 Diseasep.CYS118TYRDENYS-DRASH SYNDROME
OMIM607102.0015 Diseasep.HIS161GLNDENYS-DRASH SYNDROME
OMIM607102.0012 Diseasep.HIS165TYRDENYS-DRASH SYNDROME||NEPHROTIC SYNDROME, TYPE 4, INCLUDED
OMIM607102.0022 Diseasep.PHE171LEUNEPHROTIC SYNDROME, TYPE 4
OMIM607102.0025 Diseasep.PHE180LEUFRASIER SYNDROME
OMIM607102.0016 Diseasep.SER61GLYMESOTHELIOMA, SOMATIC



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