Results for the protein: P10071

Results for the Protein: P10071

269849770

2737

GLI3

NCBI, UniProt

GLI3_HUMAN RecName: Full=Transcriptional activator GLI3; AltName: Full=GLI3 form of 190 kDa; Short=GLI3-190; AltName: Full=GLI3 full length protein; Short=GLI3FL; Contains: RecName: Full=Transcriptional repressor GLI3R; AltName: Full=GLI3 C-terminally truncated form; AltName: Full=GLI3 form of 83 kDa; Short=GLI3-83

Known Diseases associated with this Protein:
  GREIG CEPHALO-POLY-SYNDACTYLY SYNDROME (GCPS)
  GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
  GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE
  PALLISTER-HALL SYNDROME
  POLYDACTYLY, POSTAXIAL B (PAPB)
  POSTAXIAL POLYDACTYLY, TYPE A1/B
  PREAXIAL POLYDACTYLY, TYPE IV, INCLUDED

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10

5

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Default View: ZnF_C2H2 - smart00355 zf-C2H2 - pfam00096	Swiss-Prot Protein: P10071 Identical to: NP_000159 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
zf-C2H2	pfam00096	0.00012	576	601
zf-C2H2	pfam00096	1e-06	607	632
ZnF_C2H2	smart00355	2.6e-05	546	570
ZnF_C2H2	smart00355	4.2e-05	576	601
ZnF_C2H2	smart00355	2.6e-06	607	632

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_021482	Disease	p.ALA934PRO	Greig cephalo-poly-syndactyly syndrome (GCPS)
dbSNP	rs35364414	Polymorphism	p.ARG1537CYS	N/A
Swiss-Prot	VAR_021481	Disease	p.ARG625TRP	Greig cephalo-poly-syndactyly syndrome (GCPS)
Swiss-Prot	VAR_010052	Polymorphism	p.ASP440GLU	N/A
Swiss-Prot	VAR_010053	Disease	p.CYS515GLY	Greig cephalo-poly-syndactyly syndrome (GCPS)
Swiss-Prot	VAR_010054	Disease	p.CYS520TYR	Greig cephalo-poly-syndactyly syndrome (GCPS)
Swiss-Prot	VAR_009876	Disease	p.GLY727ARG	Polydactyly, postaxial B (PAPB)
dbSNP	rs35280470	Polymorphism	p.GLY1336GLU	N/A
Swiss-Prot	VAR_010056	Disease	p.ILE808MET	Greig cephalo-poly-syndactyly syndrome (GCPS)
Swiss-Prot	VAR_035560	Polymorphism	p.PRO169LEU	N/A
dbSNP	rs929387	Polymorphism	p.PRO998LEU	N/A
Swiss-Prot	VAR_010055	Disease	p.PRO707SER	Greig cephalo-poly-syndactyly syndrome (GCPS)
dbSNP	rs79049330	Polymorphism	p.SER1028ILE	N/A
Swiss-Prot	VAR_035561	Polymorphism	p.SER1304PRO	N/A
dbSNP	rs846266	Polymorphism	p.THR183ALA	N/A
OMIM	165240.0013	Disease	p.ALA934PRO	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE
OMIM	165240.0014	Disease	p.ARG290TER	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME\|\|PREAXIAL POLYDACTYLY, TYPE IV, INCLUDED
OMIM	165240.0008	Disease	p.ARG643TER	POSTAXIAL POLYDACTYLY, TYPE A1/B
OMIM	165240.0016	Disease	p.ARG792TER	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
OMIM	165240.0012	Disease	p.ARG625TRP	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
OMIM	165240.0018	Disease	p.GLN496TER	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
OMIM	165240.0006	Disease	p.GLU1147TER	PALLISTER-HALL SYNDROME
OMIM	165240.0010	Disease	p.GLU543TER	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
OMIM	165240.0009	Disease	p.GLY727ARG	POSTAXIAL POLYDACTYLY, TYPE A1/B
OMIM	165240.0019	Disease	p.PRO707SER	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME

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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