ConVarT

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

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Start Lost

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
7-74103463-A-G	ENST00000346152	p.Met1?	Start Lost	0	0	0	rs782164151
7-74103473-T-C	ENST00000346152	p.Val4Ala	Missense Variant	0	0	0
7-74103474-T-A	ENST00000346152	p.Val4Val	Synonymous Variant	0	0	0	rs782493466
7-74103476-C-G	ENST00000346152	p.Ala5Gly	Missense Variant	0	0	0
7-74103479-T-C	ENST00000346152	p.Met6Thr	Missense Variant	0	0	0	rs781807761
7-74103484-A-G	ENST00000346152	p.Thr8Ala	Missense Variant	0	0	0
7-74103486-C-T	ENST00000346152	p.Thr8Thr	Synonymous Variant	0	0	0	rs587651814
7-74103487-C-A	ENST00000346152	p.Leu9Ile	Missense Variant	0	0	0
7-74103489-C-T	ENST00000346152	p.Leu9Leu	Synonymous Variant	0	0	0	rs781817779
7-74103492-C-T	ENST00000346152	p.Pro10Pro	Synonymous Variant	5	31290	0.00016	rs142138701
7-74103493-G-A	ENST00000346152	p.Val11Ile	Missense Variant	0	0	0	rs782542929
7-74103504-G-C	ENST00000346152	p.Glu14Asp	Missense Variant	0	0	0
7-74103507-G-A	ENST00000346152	p.Glu15Glu	Synonymous Variant	0	0	0
7-74103510-C-T	ENST00000346152	p.Ser16Ser	Synonymous Variant	0	0	0	rs782588651
7-74103512-C-T	ENST00000346152	p.Ser17Leu	Missense Variant	0	0	0	rs782177453
7-74103513-G-A	ENST00000346152	p.Ser17Ser	Synonymous Variant	5	31308	0.00016	rs146689774
7-74103520-A-C	ENST00000346152	p.Arg20Arg	Synonymous Variant	1	31334	0.000032	rs373523357
7-74103523-A-G	ENST00000346152	p.Met21Val	Missense Variant	0	0	0	rs782238246
7-74103528-G-A	ENST00000346152	p.Val22Val	Synonymous Variant	11	31316	0.000351	rs139725334
7-74103537-C-T	ENST00000346152	p.Phe25Phe	Synonymous Variant	0	0	0	rs782019694

Showing 1 to 20 of 405 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)

Deletion - Frameshift

Insertion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

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
GTF2I_ENST00000346152	ENST00000346152	8057490	pancreas	carcinoma	31091133	c.686-783C>G	p.?	Unknown	NEUTRAL	.01092	Confirmed somatic variant	PMID: N/A	NS	0
GTF2I_ENST00000346152	ENST00000346152	Pt_4_Relapse	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	31087717	c.1506G>T	p.R502S	Substitution - Missense		.67656	Variant of unknown origin	PMID: 27369867	recurrent	502
GTF2I_ENST00000346152	ENST00000346152	PD24199a	breast	carcinoma	31089267	c.686-2068C>T	p.?	Unknown	NEUTRAL	.00974	Confirmed somatic variant	PMID: N/A	NS	0
GTF2I_ENST00000346152	ENST00000346152	8058336	pancreas	carcinoma	31088487	c.-6+9865G>A	p.?	Unknown	NEUTRAL	.0079	Confirmed somatic variant	PMID: N/A	NS	0
GTF2I_ENST00000346152	ENST00000346152	286C	thyroid	carcinoma	31091209	c.666_667del	p.E223Tfs*24	Deletion - Frameshift			Confirmed somatic variant	PMID: N/A	primary	223
GTF2I_ENST00000346152	ENST00000346152	TCGA-BF-A1PX-01	skin	malignant_melanoma	31088774	c.*16G>T	p.?	Unknown	NEUTRAL	.32735	Confirmed somatic variant	PMID: N/A	primary	0
GTF2I_ENST00000346152	ENST00000346152	CHG-12-13407T	liver	other	31087478	c.1252C>A	p.L418M	Substitution - Missense	PATHOGENIC	.7427	Confirmed somatic variant	PMID: N/A	primary	418
GTF2I_ENST00000346152	ENST00000346152	CHG-12-13407T	liver	other	31087486	c.1278G>A	p.Q426=	Substitution - coding silent		.5052	Confirmed somatic variant	PMID: N/A	primary	426
GTF2I_ENST00000346152	ENST00000346152	CHG-12-13407T	liver	other	31087463	c.1102C>T	p.L368F	Substitution - Missense	PATHOGENIC	.91579	Confirmed somatic variant	PMID: N/A	primary	368
GTF2I_ENST00000346152	ENST00000346152	CHG-12-13407T	liver	other	31087470	c.1248G>A	p.E416=	Substitution - coding silent	NEUTRAL	.18778	Confirmed somatic variant	PMID: N/A	primary	416
GTF2I_ENST00000346152	ENST00000346152	CHG-12-13407T	liver	other	31087467	c.1242-28T>A	p.?	Unknown	NEUTRAL	.00114	Confirmed somatic variant	PMID: N/A	primary	0
GTF2I_ENST00000346152	ENST00000346152	CHG-12-13407T	liver	other	31087459	c.1095G>A	p.P365=	Substitution - coding silent	NEUTRAL	.00565	Confirmed somatic variant	PMID: N/A	primary	365
GTF2I_ENST00000346152	ENST00000346152	C20CA	large_intestine	carcinoma	31087413	c.798del	p.K266Nfs*60	Deletion - Frameshift			Confirmed somatic variant	PMID: 29967250	primary	266
GTF2I_ENST00000346152	ENST00000346152	GBM20-R3	central_nervous_system	glioma	31088797	c.322G>A	p.E108K	Substitution - Missense	PATHOGENIC	.97024	Confirmed somatic variant	PMID: 28263318	recurrent	108
GTF2I_ENST00000346152	ENST00000346152	0067_CRUK_PC_0067_T1_DNA	prostate	carcinoma	31087905	c.1687+174T>G	p.?	Unknown	NEUTRAL	.00647	Confirmed somatic variant	PMID: N/A	primary	0
GTF2I_ENST00000346152	ENST00000346152	CPCG0508-F1	prostate	carcinoma	31088312	c.881-5355_881-5343del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
GTF2I_ENST00000346152	ENST00000346152	W34T	thyroid	carcinoma	31087242	c.1613C>T	p.P538L	Substitution - Missense		.66938	Confirmed somatic variant	PMID: N/A	primary	538
GTF2I_ENST00000346152	ENST00000346152	TCGA-DD-AAE8-01	liver	carcinoma	31091192	c.374-199C>T	p.?	Unknown	NEUTRAL	.04921	Confirmed somatic variant	PMID: N/A	primary	0
GTF2I_ENST00000346152	ENST00000346152	TCGA-D3-A5GO-06	skin	malignant_melanoma	31087922	c.1860C>T	p.F620=	Substitution - coding silent	NEUTRAL	.15492	Confirmed somatic variant	PMID: N/A	NS	620
GTF2I_ENST00000346152	ENST00000346152	2017_AML_08_T	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	31087489	c.1838G>A	p.R613H	Substitution - Missense	PATHOGENIC	.92156	Confirmed somatic variant	PMID: N/A	primary	613

Showing 1 to 20 of 311 entries

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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**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.565	0.655
Acute Myeloid Leukemia, M1	Neoplasms ;	0.565	0.655
Sicca Syndrome	Musculoskeletal Diseases ; Stomatognathic Diseases ; Eye Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.565	0.655
Williams Syndrome	Nervous System Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.565	0.655
Thymic epithelial tumor	Neoplasms ; Hemic and Lymphatic Diseases ;	0.565	0.655
Autism Spectrum Disorders	Mental Disorders ;	0.565	0.655
Sjogren's Syndrome	Musculoskeletal Diseases ; Stomatognathic Diseases ; Eye Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.565	0.655
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.565	0.655
NO RESULT FOUND

Description:	general transcription factor IIi [Source:NCBI gene;Acc:574269]
Synonyms:
Other ID(s):	ENSMMUG00000006823
Protein Accession Numbers:	XP_014988815, XP_014988812, XP_014988818, XP_014988814, XP_014988811, XP_014988816, XP_014988813, NP_001244294, XP_014988819
Statistics:	ClinVar(1) gnomAD(405) COSMIC(311)

Classification of Clinicial Significance of ClinVar Data