Results for the protein: Q8IY92

Results for the Protein: Q8IY92

205371796

84464

SLX4

NCBI, UniProt

SLX4_HUMAN RecName: Full=Structure-specific endonuclease subunit SLX4; AltName: Full=BTB/POZ domain-containing protein 12

			0 45 0 13 32

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Default View: BTB - pfam00651 BTB - smart00225	Swiss-Prot Protein: Q8IY92 Identical to: NP_115820 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
BTB	smart00225	4.8e-08	692	787

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_069004	Polymorphism	p.ALA952MET	N/A
Swiss-Prot	VAR_046337	Polymorphism	p.ALA1367THR	N/A
Swiss-Prot	VAR_068994	Polymorphism	p.ALA505THR	N/A
dbSNP	rs59939128	Polymorphism	p.ALA952THR	N/A
dbSNP	rs3827530	Polymorphism	p.ALA1221VAL	N/A
Swiss-Prot	VAR_069009	Polymorphism	p.ALA1286VAL	N/A
Swiss-Prot	VAR_069015	Polymorphism	p.ALA1694VAL	N/A
Swiss-Prot	VAR_068991	Polymorphism	p.ALA424VAL	N/A
Swiss-Prot	VAR_069000	Polymorphism	p.ALA870VAL	N/A
dbSNP	rs78637028	Polymorphism	p.ALA952VAL	N/A
Swiss-Prot	VAR_069016	Polymorphism	p.ARG1814CYS	N/A
dbSNP	rs79842542	Polymorphism	p.ARG204CYS	N/A
Swiss-Prot	VAR_068986	Polymorphism	p.ARG237GLN	N/A
Swiss-Prot	VAR_069007	Polymorphism	p.ARG1060TRP	N/A
Swiss-Prot	VAR_069014	Polymorphism	p.ARG1550TRP	N/A
dbSNP	rs74319927	Polymorphism	p.ASN457LYS	N/A
Swiss-Prot	VAR_069017	Polymorphism	p.ASN1834SER	N/A
Swiss-Prot	VAR_069006	Polymorphism	p.GLN1007LYS	N/A
dbSNP	rs114014006	Polymorphism	p.GLU942GLN	N/A
Swiss-Prot	VAR_068999	Polymorphism	p.GLU787LYS	N/A
dbSNP	rs78770603	Polymorphism	p.GLY1534SER	N/A
Swiss-Prot	VAR_068983	Polymorphism	p.GLY141TRP	N/A
Swiss-Prot	VAR_068987	Polymorphism	p.HIS284ARG	N/A
Swiss-Prot	VAR_069012	Polymorphism	p.ILE1421PHE	N/A
Swiss-Prot	VAR_068982	Polymorphism	p.LEU38PHE	N/A
Swiss-Prot	VAR_068997	Polymorphism	p.LEU579PRO	N/A
dbSNP	rs77985244	Polymorphism	p.LEU671SER	N/A
Swiss-Prot	VAR_068993	Polymorphism	p.LYS458GLU	N/A
dbSNP	rs113490934	Polymorphism	p.MET386VAL	N/A
dbSNP	rs714181	Polymorphism	p.PRO1122LEU	N/A
dbSNP	rs117707719	Polymorphism	p.PRO929LEU	N/A
Swiss-Prot	VAR_069005	Polymorphism	p.PRO975LEU	N/A
Swiss-Prot	VAR_046338	Polymorphism	p.PRO1677SER	N/A
Swiss-Prot	VAR_068988	Polymorphism	p.PRO378THR	N/A
Swiss-Prot	VAR_068989	Polymorphism	p.PRO385THR	N/A
Swiss-Prot	VAR_068995	Polymorphism	p.SER506ASN	N/A
Swiss-Prot	VAR_069011	Polymorphism	p.SER1342GLY	N/A
dbSNP	rs3810813	Polymorphism	p.SER1271PHE	N/A
dbSNP	rs75182789	Polymorphism	p.SER1716THR	N/A
Swiss-Prot	VAR_069008	Polymorphism	p.SER1123TYR	N/A
Swiss-Prot	VAR_069013	Polymorphism	p.THR1476SER	N/A
Swiss-Prot	VAR_068984	Polymorphism	p.VAL197ALA	N/A
Swiss-Prot	VAR_069010	Polymorphism	p.VAL1287GLY	N/A
Swiss-Prot	VAR_069001	Polymorphism	p.VAL894GLY	N/A
Swiss-Prot	VAR_068996	Polymorphism	p.VAL568MET	N/A

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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