ConVarT

S100A8 (GeneID: 6279) | Homo sapiens

Description:	S100 calcium binding protein A8 [Source:HGNC Symbol;Acc:HGNC:10498]
Synonyms:	L1Ag, CFAG, 60B8AG, MRP8, CP-10, CAGA, P8, MIF, CGLA, A387, NIF
Other ID(s):	ENSG00000143546, HGNC:10498
Protein Accession Numbers:	ENST00000368733, NP_002955, NP_001306126, ENST00000368732, NP_001306130, NP_001306125, NP_001306127
Statistics:

∙ 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.
ENST00000368732 ENST00000368733 NP_001306125 You are here now! NP_001306126 NP_001306127 NP_001306130 NP_002955

ClinVar Data

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

gnomAD

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
No data available in table

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Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position

dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
NO DOMAINS EXIST

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Dermatitis, Atopic	Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.481	0.828
Contact Dermatitis	Skin and Connective Tissue Diseases ;	0.481	0.828
Keloid	Skin and Connective Tissue Diseases ; Pathological Conditions, Signs and Symptoms ;	0.481	0.828
Leukemia, Myelocytic, Acute	Neoplasms ;	0.481	0.828
Animal Mammary Neoplasms	Neoplasms ; Animal Diseases ;	0.481	0.828
Acute Myeloid Leukemia, M1	Neoplasms ;	0.481	0.828
Eczema, Infantile	Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.481	0.828
Contact hypersensitivity	Skin and Connective Tissue Diseases ;	0.481	0.828
Mammary Carcinoma, Animal	Neoplasms ; Animal Diseases ;	0.481	0.828
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.481	0.828
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data