ConVarT

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

Inframe Insertion

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
19-7684477-C-T	ENST00000534844	p.Asp852Asn	Missense Variant	0	0	0	rs1190250306
19-7684480-C-T	ENST00000534844	p.Glu851Lys	Missense Variant	0	0	0	rs1369526726
19-7684481-C-T	ENST00000534844	p.Lys850Lys	Synonymous Variant	0	0	0	rs1475106273
19-7684482-T-C	ENST00000534844	p.Lys850Arg	Missense Variant	1	31314	0.000032	rs1336082959
19-7684484-C-T	ENST00000534844	p.Leu849Leu	Synonymous Variant	0	0	0	rs138952301
19-7684488-C-T	ENST00000534844	p.Ser848Asn	Missense Variant	0	0	0	rs745659658
19-7684490-C-T	ENST00000534844	p.Gly847Gly	Synonymous Variant	0	0	0	rs772010020
19-7684493-A-C	ENST00000534844	p.Phe846Leu	Missense Variant	0	0	0	rs775262544
19-7684496-C-A	ENST00000534844	p.Val845Val	Synonymous Variant	0	0	0	rs746996282
19-7684498-C-A	ENST00000534844	p.Val845Leu	Missense Variant	0	0	0	rs769984282
19-7684501-C-T	ENST00000534844	p.Ala844Thr	Missense Variant	0	0	0	rs538580383
19-7684502-G-A	ENST00000534844	p.Ala843Ala	Synonymous Variant	1186	31274	0.037923	rs4134869
19-7684504-C-A	ENST00000534844	p.Ala843Ser	Missense Variant	0	0	0	rs766525949
19-7684510-C-T	ENST00000534844	p.Val841Met	Missense Variant	0	0	0	rs774729857
19-7684511-G-A	ENST00000534844	p.Ser840Ser	Synonymous Variant	0	0	0	rs759847926
19-7684515-T-C	ENST00000534844	p.Gln839Arg	Missense Variant	0	0	0	rs1258531849
19-7684517-C-T	ENST00000534844	p.Gln838Gln	Synonymous Variant	0	0	0	rs767962259
19-7684520-C-T	ENST00000534844	p.Glu837Glu	Synonymous Variant	0	0	0	rs753179460
19-7684521-T-G	ENST00000534844	p.Glu837Ala	Missense Variant	0	0	0	rs756670916
19-7684526-C-T	ENST00000534844	p.Arg835Arg	Synonymous Variant	0	0	0	rs763586732

Showing 1 to 20 of 911 entries

Previous1 2 3 4 5…46Next

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

Deletion - In Frame

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
XAB2_ENST00000534844	ENST00000534844	HUB-02-B2-066	large_intestine	carcinoma	81057640	c.1111-51G>A	p.?	Unknown	NEUTRAL	.02554	Confirmed somatic variant	PMID: N/A	NS	0
XAB2_ENST00000534844	ENST00000534844	MBC_110	breast	carcinoma	81056478	c.443T>A	p.L148Q	Substitution - Missense	PATHOGENIC	.94877	Confirmed somatic variant	PMID: 28027327	metastasis	148
XAB2_ENST00000534844	ENST00000534844	W10T	thyroid	carcinoma	81059487	c.104G>T	p.W35L	Substitution - Missense	PATHOGENIC	.94389	Confirmed somatic variant	PMID: N/A	primary	35
XAB2_ENST00000534844	ENST00000534844	TCGA-EE-A3AG-06	skin	malignant_melanoma	81057386	c.*10C>T	p.?	Unknown	NEUTRAL	.03145	Confirmed somatic variant	PMID: N/A	NS	0
XAB2_ENST00000534844	ENST00000534844	2014_Lung_sq_100_T	lung	carcinoma	81056748	c.814-127A>T	p.?	Unknown	NEUTRAL	.01824	Confirmed somatic variant	PMID: N/A	primary	0
XAB2_ENST00000534844	ENST00000534844	TCGA-AP-A0LS-01	endometrium	carcinoma	81057823	c.2203G>A	p.V735I	Substitution - Missense	PATHOGENIC	.90271	Confirmed somatic variant	PMID: N/A	NS	735
XAB2_ENST00000534844	ENST00000534844	TCGA-BH-A0DZ-01	breast	carcinoma	81059262	c.1541C>G	p.T514R	Substitution - Missense	PATHOGENIC	.95921	Confirmed somatic variant	PMID: N/A	primary	514
XAB2_ENST00000534844	ENST00000534844	RD	soft_tissue	rhabdomyosarcoma	81052564	c.257A>C	p.D86A	Substitution - Missense	PATHOGENIC	.97758	Reported in another cancer sample as somatic	PMID: 24793135	NS	86
XAB2_ENST00000534844	ENST00000534844	2834130	skin	malignant_melanoma	81053459	c.1695T>A	p.Y565*	Substitution - Nonsense	NEUTRAL	.4446	Variant of unknown origin	PMID: 28296713	primary	565
XAB2_ENST00000534844	ENST00000534844	GCYC_133_T	stomach	carcinoma	81059565	c.1858G>A	p.V620M	Substitution - Missense	PATHOGENIC	.90872	Confirmed somatic variant	PMID: N/A	primary	620
XAB2_ENST00000534844	ENST00000534844	D85T	thyroid	carcinoma	81052564	c.257A>C	p.D86A	Substitution - Missense	PATHOGENIC	.97758	Confirmed somatic variant	PMID: N/A	primary	86
XAB2_ENST00000534844	ENST00000534844	T368	large_intestine	carcinoma	81060030	c.1569G>A	p.M523I	Substitution - Missense	PATHOGENIC	.85683	Confirmed somatic variant	PMID: 25344691	NS	523
XAB2_ENST00000534844	ENST00000534844	TCGA-5L-AAT0-01	breast	carcinoma	81060950	c.-36C>G	p.?	Unknown	NEUTRAL	.10022	Confirmed somatic variant	PMID: N/A	primary	0
XAB2_ENST00000534844	ENST00000534844	454	oesophagus	carcinoma	81053063	c.1294G>A	p.V432M	Substitution - Missense	PATHOGENIC	.96259	Confirmed somatic variant	PMID: 25151357	primary	432
XAB2_ENST00000534844	ENST00000534844	2834130	skin	malignant_melanoma	81053467	c.1693T>A	p.Y565N	Substitution - Missense	PATHOGENIC	.99733	Variant of unknown origin	PMID: 28296713	primary	565
XAB2_ENST00000534844	ENST00000534844	2834130	skin	malignant_melanoma	81053442	c.1696G>T	p.G566W	Substitution - Missense	PATHOGENIC	.99631	Variant of unknown origin	PMID: 28296713	primary	566
XAB2_ENST00000534844	ENST00000534844	CAL33	upper_aerodigestive_tract	carcinoma	81052564	c.257A>C	p.D86A	Substitution - Missense	PATHOGENIC	.97758	Reported in another cancer sample as somatic	PMID: 25275298	NS	86
XAB2_ENST00000534844	ENST00000534844	TCGA-AA-3492-01	large_intestine	carcinoma	81058253	c.1043G>A	p.R348H	Substitution - Missense	PATHOGENIC	.9544	Confirmed somatic variant	PMID: N/A	NS	348
XAB2_ENST00000534844	ENST00000534844	TCGA-CV-A45W-01	upper_aerodigestive_tract	carcinoma	81056195	c.1091A>T	p.H364L	Substitution - Missense	PATHOGENIC	.91061	Confirmed somatic variant	PMID: N/A	primary	364
XAB2_ENST00000534844	ENST00000534844	DCG_04	central_nervous_system	glioma	81054235	c.2057G>C	p.S686T	Substitution - Missense	PATHOGENIC	.71232	Confirmed somatic variant	PMID: 28852847	NS	686

Showing 1 to 20 of 316 entries

Previous1 2 3 4 5…16Next

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
PF13181	TPR_8	Tetratricopeptide repeat	256-285	CL0020	TPR	Mus musculus
PF13181	TPR_8	Tetratricopeptide repeat	395-428	CL0020	TPR	Mus musculus

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
NO RESULT FOUND
NO RESULT FOUND

Description:	XPA binding protein 2 [Source:HGNC Symbol;Acc:HGNC:14089]
Synonyms:	SYF1, HCNP, NTC90, HCRN
Other ID(s):	HGNC:14089, ENSG00000076924
Protein Accession Numbers:	ENST00000358368, NP_064581, ENST00000534844
Statistics:	gnomAD(911) COSMIC(316)

Classification of Clinicial Significance of ClinVar Data