Results for the protein: P10070

Results for the Protein: P10070

215274258

2736

GLI2

NCBI, UniProt

GLI2_HUMAN RecName: Full=Zinc finger protein GLI2; AltName: Full=Tax helper protein

Known Diseases associated with this Protein:
HOLOPROSENCEPHALY 9
HOLOPROSENCEPHALY 9 (HPE9)

9

5

5

2

7

Tips:

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Default View: ZnF_C2H2 - smart00355 zf-C2H2 - pfam00096	Swiss-Prot Protein: P10070 Identical to: NP_005261 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
zf-C2H2	pfam00096	0.00012	533	558
zf-C2H2	pfam00096	1.8e-06	564	589
ZnF_C2H2	smart00355	1.7e-05	503	527
ZnF_C2H2	smart00355	4.2e-05	533	558
ZnF_C2H2	smart00355	3.4e-06	564	589

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs3738880	Polymorphism	p.ALA1156SER	N/A
Swiss-Prot	VAR_032975	Disease	p.ARG479GLY	Holoprosencephaly 9 (HPE9)
dbSNP	rs12711538	Polymorphism	p.ASP1306ASN	N/A
Swiss-Prot	VAR_047303	Polymorphism	p.ASP449HIS	N/A
Swiss-Prot	VAR_032977	Disease	p.MET1444ILE	Holoprosencephaly 9 (HPE9)
Swiss-Prot	VAR_032978	Disease	p.PRO1554LEU	Holoprosencephaly 9 (HPE9)
Swiss-Prot	VAR_047305	Polymorphism	p.PRO625SER	N/A
Swiss-Prot	VAR_032976	Disease	p.PRO932SER	Holoprosencephaly 9 (HPE9)
Swiss-Prot	VAR_047304	Polymorphism	p.SER579ILE	N/A
OMIM	165230.0003	Disease	p.ARG151GLY	HOLOPROSENCEPHALY 9
OMIM	165230.0007	Disease	p.ASP1520ASN	HOLOPROSENCEPHALY 9
OMIM	165230.0006	Disease	p.GLU629LYS	HOLOPROSENCEPHALY 9
OMIM	165230.0004	Disease	p.SER1555PRO	HOLOPROSENCEPHALY 9
OMIM	165230.0002	Disease	p.TRP113TER	HOLOPROSENCEPHALY 9

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