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Results for the Protein: Q96K19
134035027

RN170_HUMAN RecName: Full=E3 ubiquitin-protein ligase RNF170; AltName: Full=Putative LAG1-interacting protein; AltName: Full=RING finger protein 170

Known Diseases associated with this Protein:
  ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT
  ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (SNAX1)
2
0
1
0
1
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Default View:

RING - cd00162
RING - smart00184
zf-C3HC4 - pfam00097
DUF1232 - pfam06803


Swiss-Prot Protein: Q96K19
Identical to: NP_112216, NP_001153695
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RINGcd001624.3e-1386133
zf-C3HC4pfam000973.8e-0887129
RINGsmart001843.3e-1087129
DUF1232pfam068031.7e-11200240

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068219Diseasep.ARG199CYSAtaxia, sensory, 1, autosomal dominant (SNAX1)
OMIM614649.0001 Diseasep.ARG199CYSATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT



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