ConVarT

ANXA5 (GeneID: 308) | Homo sapiens

Description:	annexin A5 [Source:HGNC Symbol;Acc:HGNC:543]
Synonyms:	PP4, ANX5, HEL-S-7, RPRGL3, ENX2
Other ID(s):	HGNC:543, ENSG00000164111
Protein Accession Numbers:	ENST00000515017, ENST00000501272, ENST00000513728, ENST00000296511, NP_001145, ENST00000506395
Statistics:	gnomAD(146)

gnomAD Variants By Annotation

Frameshift Variant

Inframe Deletion

Missense Variant

Splice Region Variant

Start Lost

Stop Gained

Synonymous Variant

∙ 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.
ENST00000296511 ENST00000501272 ENST00000506395 ENST00000513728 ENST00000515017 NP_001145

ClinVar Data

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

gnomAD

Frameshift Variant

Inframe Deletion

Missense Variant

Splice Region Variant

Start Lost

Stop Gained

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
4-122599555-A-G	ENST00000506395	p.Asp163Asp	Synonymous Variant	0	0	0	rs774548386
4-122599558-T-C	ENST00000506395	p.Gly162Gly	Synonymous Variant	0	0	0	rs760027157
4-122599562-C-A	ENST00000506395	p.Arg161Leu	Missense Variant	0	0	0	rs374246149
4-122599562-C-T	ENST00000506395	p.Arg161His	Missense Variant	0	0	0	rs374246149
4-122599563-G-A	ENST00000506395	p.Arg161Cys	Missense Variant	1	31388	0.000032	rs571398297
4-122599566-A-G	ENST00000506395	p.Leu160Leu	Synonymous Variant	0	0	0	rs764592261
4-122599567-T-C	ENST00000506395	p.Val159Val	Synonymous Variant	0	0	0	rs750003688
4-122599568-A-G	ENST00000506395	p.Val159Ala	Missense Variant	0	0	0	rs1287473011
4-122599572-G-A	ENST00000506395	p.Gln158Ter	Stop Gained	0	0	0	rs1346124618	nc_transcript
4-122599573-AAGG-A	ENST00000506395	p.Leu157del	Inframe Deletion	0	0	0	rs1225234851
4-122599579-AACC-A	ENST00000506395	p.Val155del	Inframe Deletion	1	31402	0.000032	rs763820845
4-122599592-C-T	ENST00000506395	p.Arg151Gln	Missense Variant	1	31392	0.000032	rs758259826
4-122599593-G-A	ENST00000506395	p.Arg151Trp	Missense Variant	1	31386	0.000032	rs780076315
4-122599593-G-GC	ENST00000506395	p.Arg151AlafsTer18	Frameshift Variant	0	0	0	rs780076315	nc_transcript
4-122599594-C-T	ENST00000506395	p.Gln150Gln	Synonymous Variant	0	0	0	rs1204536784
4-122599603-C-T	ENST00000506395	p.Gly147Gly	Synonymous Variant	0	0	0	rs746976066
4-122599609-A-G	ENST00000506395	p.Thr145Thr	Synonymous Variant	0	0	0	rs754732080
4-122599611-T-C	ENST00000506395	p.Thr145Ala	Missense Variant	0	0	0	rs886294267
4-122599612-G-A	ENST00000506395	p.Asp144Asp	Synonymous Variant	2	31398	0.000064	rs142008590
4-122599613-T-C	ENST00000506395	p.Asp144Gly	Missense Variant	0	0	0	rs748313765

Showing 1 to 20 of 146 entries

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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	Organism
NO RESULT FOUND
PF00191	Annexin	Annexin	17-82	Mus musculus
PF00191	Annexin	Annexin	248-313	Mus musculus
PF00191	Annexin	Annexin	89-154	Mus musculus
PF00191	Annexin	Annexin	172-238	Mus musculus

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Squamous cell carcinoma	Neoplasms ;	0.49	0.69
Hepatolenticular Degeneration	Digestive System Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.49	0.69
Leukemia, Myelocytic, Acute	Neoplasms ;	0.49	0.69
Liver Cirrhosis, Experimental	Digestive System Diseases ;	0.49	0.69
Malignant neoplasm of stomach	Neoplasms ; Digestive System Diseases ;	0.49	0.69
Mouth Neoplasms	Neoplasms ; Stomatognathic Diseases ;	0.49	0.69
Acute Myeloid Leukemia, M1	Neoplasms ;	0.49	0.69
Pre-Eclampsia	Female Urogenital Diseases and Pregnancy Complications ;	0.49	0.69
Stomach Neoplasms	Neoplasms ; Digestive System Diseases ;	0.49	0.69
Weight Gain	Pathological Conditions, Signs and Symptoms ;	0.49	0.69
Adenocarcinoma of lung (disorder)	Neoplasms ; Respiratory Tract Diseases ;	0.49	0.69
Malignant neoplasm of mouth	Neoplasms ; Stomatognathic Diseases ;	0.49	0.69
Hepatic Form of Wilson Disease	Digestive System Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.49	0.69
Hereditary Diffuse Gastric Cancer	Neoplasms ; Digestive System Diseases ;	0.49	0.69
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.49	0.69
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3	N/A	0.49	0.69
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data