ConVarT

KMT2C (GeneID: 58508) | Homo sapiens

Description:	lysine methyltransferase 2C [Source:HGNC Symbol;Acc:HGNC:13726]
Synonyms:	HALR, MLL3
Other ID(s):	HGNC:13726, ENSG00000055609
Protein Accession Numbers:	ENST00000355193, ENST00000558665, ENST00000452749, ENST00000418061, ENST00000262189.6, ENST00000558084, ENST00000424877, ENST00000360104, NP_733751, ENST00000262189, ENST00000485655, ENST00000418673
Statistics:	gnomAD(151)

gnomAD Variants By Annotation

Inframe Deletion

Missense Variant

Splice Region Variant

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.
ENST00000262189 ENST00000355193 ENST00000360104 ENST00000418061 ENST00000418673 ENST00000424877 ENST00000452749 ENST00000485655 ENST00000558084 ENST00000558665 NP_733751

ClinVar Data

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

gnomAD

Inframe Deletion

Missense Variant

Splice Region Variant

Stop Gained

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
7-151874917-A-C	ENST00000558665	p.Phe179Val	Missense Variant	0	0	0	rs764492581
7-151874922-T-C	ENST00000558665	p.Gln177Arg	Missense Variant	0	0	0	rs752035304
7-151874926-G-A	ENST00000558665	p.Pro176Ser	Missense Variant	0	0	0	rs1335592152
7-151874928-A-C	ENST00000558665	p.Leu175Arg	Missense Variant	0	0	0	rs757625566
7-151874929-G-T	ENST00000558665	p.Leu175Ile	Missense Variant	1	31132	0.000032	rs1466810414
7-151874931-C-A	ENST00000558665	p.Gly174Val	Missense Variant	0	0	0	rs1317868517
7-151874935-C-T	ENST00000558665	p.Val173Ile	Missense Variant	0	0	0	rs1381213679
7-151874936-T-C	ENST00000558665	p.Pro172Pro	Synonymous Variant	0	0	0	rs1244623975
7-151874937-G-A	ENST00000558665	p.Pro172Leu	Missense Variant	0	0	0	rs1274648170
7-151874937-G-C	ENST00000558665	p.Pro172Arg	Missense Variant	0	0	0	rs1274648170
7-151874943-T-C	ENST00000558665	p.Asn170Ser	Missense Variant	0	0	0	rs202115182
7-151874947-T-C	ENST00000558665	p.Met169Val	Missense Variant	0	0	0	rs750043881
7-151874961-A-G	ENST00000558665	p.Leu164Ser	Missense Variant	0	0	0	rs755615113
7-151874973-A-C	ENST00000558665	p.Met160Arg	Missense Variant	0	0	0	rs1442855768
7-151874974-T-C	ENST00000558665	p.Met160Val	Missense Variant	0	0	0	rs1185184729
7-151874976-T-A	ENST00000558665	p.Asp159Val	Missense Variant	0	0	0	rs1241211120
7-151874978-T-C	ENST00000558665	p.Val158Val	Synonymous Variant	0	0	0	rs1443856718
7-151874980-C-T	ENST00000558665	p.Val158Ile	Missense Variant	1	31080	0.000032	rs1331640479
7-151874986-C-T	ENST00000558665	p.Val156Ile	Missense Variant	0	0	0	rs1183096430
7-151874988-G-A	ENST00000558665	p.Ser155Leu	Missense Variant	0	0	0	rs779659766

Showing 1 to 20 of 151 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	Clan	Clan Name	Organism
NO RESULT FOUND
PF00628	PHD	PHD-finger	1003-1054	CL0390	zf-FYVE-PHD	Mus musculus
PF00628	PHD	PHD-finger	953-1003	CL0390	zf-FYVE-PHD	Mus musculus
PF00628	PHD	PHD-finger	389-437	CL0390	zf-FYVE-PHD	Mus musculus
PF00856	SET	SET domain	4775-4880			Mus musculus
PF05964	FYRN	F/Y-rich N-terminus	4544-4595			Mus musculus
PF05965	FYRC	F/Y rich C-terminus	4601-4685			Mus musculus
PF13771	zf-HC5HC2H	PHD-like zinc-binding domain	251-330	CL0390	zf-FYVE-PHD	Mus musculus
PF13832	zf-HC5HC2H_2	PHD-zinc-finger like domain	4393-4509	CL0390	zf-FYVE-PHD	Mus musculus

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Adenocarcinoma	Neoplasms ;	0.604	0.621
Malignant neoplasm of urinary bladder	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.604	0.621
Bladder Neoplasm	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.604	0.621
Carcinoma, Transitional Cell	Neoplasms ;	0.604	0.621
Adenoid Cystic Carcinoma	Neoplasms ;	0.604	0.621
Leukemia, Myelocytic, Acute	Neoplasms ;	0.604	0.621
Liver Diseases, Parasitic	Parasitic Diseases ; Digestive System Diseases ;	0.604	0.621
Malignant neoplasm of stomach	Neoplasms ; Digestive System Diseases ;	0.604	0.621
Acute Myeloid Leukemia, M1	Neoplasms ;	0.604	0.621
Prostatic Neoplasms	Neoplasms ; Male Urogenital Diseases ;	0.604	0.621
Sezary Syndrome	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.604	0.621
Stomach Neoplasms	Neoplasms ; Digestive System Diseases ;	0.604	0.621
Adenocarcinoma, Basal Cell	Neoplasms ;	0.604	0.621
Adenocarcinoma, Oxyphilic	Neoplasms ;	0.604	0.621
Carcinoma, Cribriform	Neoplasms ;	0.604	0.621
Carcinoma, Granular Cell	Neoplasms ;	0.604	0.621
Adenocarcinoma, Tubular	Neoplasms ;	0.604	0.621
Cholangiocarcinoma	Neoplasms ;	0.604	0.621
Squamous cell carcinoma of esophagus	Neoplasms ; Digestive System Diseases ;	0.604	0.621
Intrahepatic Cholangiocarcinoma	Neoplasms ;	0.604	0.621
Malignant neoplasm of prostate	Neoplasms ; Male Urogenital Diseases ;	0.604	0.621
Kleefstra Syndrome	Musculoskeletal Diseases ; Nervous System Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.604	0.621
Colorectal Cancer	Neoplasms ; Digestive System Diseases ;	0.604	0.621
Neurodevelopmental Disorders	Mental Disorders ;	0.604	0.621
Hereditary Diffuse Gastric Cancer	Neoplasms ; Digestive System Diseases ;	0.604	0.621
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.604	0.621
Liver carcinoma	Neoplasms ; Digestive System Diseases ;	0.604	0.621
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.604	0.621
Extrahepatic Cholangiocarcinoma	Neoplasms ;	0.604	0.621
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data