HSPB1 (GeneID: 463488) | Pan troglodytes
Description: heat shock protein family B (small) member 1 [Source:VGNC Symbol;Acc:VGNC:7394]
Synonyms:
Other ID(s): ENSPTRG00000019319
Protein Accession Numbers: XP_519162
Statistics: ClinVar(160) gnomAD(316) COSMIC(45) PTM(46)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000248553 You are here now! ENST00000429938 ENST00000447574 NP_001531 You are here now!


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00011 HSP20 Hsp20/alpha crystallin family 87-184 CL0190 HSP20 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Malignant tumor of colon Neoplasms ; Digestive System Diseases ; 0.468 0.69
Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.468 0.69
Squamous cell carcinoma Neoplasms ; 0.468 0.69
Hypertrophic Cardiomyopathy Cardiovascular Diseases ; 0.468 0.69
Charcot-Marie-Tooth Disease Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.468 0.69
Colonic Neoplasms Neoplasms ; Digestive System Diseases ; 0.468 0.69
Contact Dermatitis Skin and Connective Tissue Diseases ; 0.468 0.69
Heart failure Cardiovascular Diseases ; 0.468 0.69
Congestive heart failure Cardiovascular Diseases ; 0.468 0.69
HIV Infections Virus Diseases ; Immune System Diseases ; 0.468 0.69
Hyperplasia Pathological Conditions, Signs and Symptoms ; 0.468 0.69
Left-Sided Heart Failure Cardiovascular Diseases ; 0.468 0.69
Leukemia, Myelocytic, Acute Neoplasms ; 0.468 0.69
Malignant neoplasm of stomach Neoplasms ; Digestive System Diseases ; 0.468 0.69
Mouth Neoplasms Neoplasms ; Stomatognathic Diseases ; 0.468 0.69
Multiple Myeloma Neoplasms ; Cardiovascular Diseases ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.468 0.69
Acute Myeloid Leukemia, M1 Neoplasms ; 0.468 0.69
Reperfusion Injury Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.468 0.69
Status Epilepticus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.468 0.69
Stomach Neoplasms Neoplasms ; Digestive System Diseases ; 0.468 0.69
Tongue Neoplasms Neoplasms ; Stomatognathic Diseases ; 0.468 0.69
Adenocarcinoma of lung (disorder) Neoplasms ; Respiratory Tract Diseases ; 0.468 0.69
Malignant neoplasm of tongue Neoplasms ; Stomatognathic Diseases ; 0.468 0.69
Malignant neoplasm of mouth Neoplasms ; Stomatognathic Diseases ; 0.468 0.69
Contact hypersensitivity Skin and Connective Tissue Diseases ; 0.468 0.69
Heart Failure, Right-Sided Cardiovascular Diseases ; 0.468 0.69
Petit mal status Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.468 0.69
Conventional (Clear Cell) Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.468 0.69
Grand Mal Status Epilepticus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.468 0.69
Complex Partial Status Epilepticus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.468 0.69
Distal Muscular Dystrophies Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.468 0.69
Status Epilepticus, Subclinical Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.468 0.69
Non-Convulsive Status Epilepticus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.468 0.69
Simple Partial Status Epilepticus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.468 0.69
Chromophobe Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.468 0.69
Sarcomatoid Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.468 0.69
Collecting Duct Carcinoma of the Kidney Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.468 0.69
Papillary Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.468 0.69
Hereditary Diffuse Gastric Cancer Neoplasms ; Digestive System Diseases ; 0.468 0.69
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.468 0.69
Spinal muscular atrophy, Jerash type Nervous System Diseases ; 0.468 0.69
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.468 0.69
Myocardial Failure Cardiovascular Diseases ; 0.468 0.69
Heart Decompensation Cardiovascular Diseases ; 0.468 0.69
Liver carcinoma Neoplasms ; Digestive System Diseases ; 0.468 0.69
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB Nervous System Diseases ; 0.468 0.69
Distal Hereditary Motor Neuropathy, Type II Nervous System Diseases ; 0.468 0.69
HIV Coinfection Virus Diseases ; Immune System Diseases ; 0.468 0.69
NO RESULT FOUND
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