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Results for the Protein: NP_001180305
301129200

telomerase reverse transcriptase isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  BONE MARROW FAILURE, TELOMERE-RELATED, 1
  DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2
  DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4
  DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4, INCLUDED
  LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
  PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
  PULMONARY FIBROSIS, TELOMERE-RELATED, 1
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Default View:

Telomerase_RBD - pfam12009
RT_nLTR_like - cd01650
TERT - cd01648




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TERTcd016488e-57711929
Telomerase_RBDpfam120092.4e-64459594

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM187270.0001 Diseasep.ALA202THRBONE MARROW FAILURE, TELOMERE-RELATED, 1
OMIM187270.0019 Diseasep.ALA716THRPULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
OMIM187270.0022 Diseasep.ALA999THRLEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
OMIM187270.0012 Diseasep.ARG811CYSDYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4
OMIM187270.0011 Diseasep.ARG631GLNDYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2
OMIM187270.0008 Diseasep.ARG865HISPULMONARY FIBROSIS, TELOMERE-RELATED, 1
OMIM187270.0013 Diseasep.ARG1TRPDYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4
OMIM187270.0002 Diseasep.HIS412TYRBONE MARROW FAILURE, TELOMERE-RELATED, 1||DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4, INCLUDED
OMIM187270.0015 Diseasep.LEU55GLNPULMONARY FIBROSIS, TELOMERE-RELATED, 1
OMIM187270.0020 Diseasep.LYS1ARGPULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
OMIM187270.0007 Diseasep.LYS1ASNDYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2
OMIM187270.0021 Diseasep.PRO1LEUPULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
OMIM187270.0014 Diseasep.PRO704SERDYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4
OMIM187270.0004 Diseasep.TYR772CYSBONE MARROW FAILURE, TELOMERE-RELATED, 1
OMIM187270.0017 Diseasep.VAL791ILEPULMONARY FIBROSIS, TELOMERE-RELATED, 1
OMIM187270.0005 Diseasep.VAL1027METBONE MARROW FAILURE, TELOMERE-RELATED, 1
OMIM187270.0018 Diseasep.VAL170METPULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
OMIM187270.0003 Diseasep.VAL694METBONE MARROW FAILURE, TELOMERE-RELATED, 1
OMIM187270.0017 Diseasep.VAL867METPULMONARY FIBROSIS, TELOMERE-RELATED, 1



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