Results for the protein: NP

Results for the Protein: NP_001128716

207113162

6949

TCOF1

NCBI

treacle protein isoform e [Homo sapiens]

Known Diseases associated with this Protein:
TREACHER COLLINS SYNDROME

3

7

3

7

0

Tips:

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Default View: LisH - smart00667 Treacle - pfam03546	RefSeq Protein: NP_001128716 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LisH	smart00667	2.6e-05	5	38

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2071240	Polymorphism	p.ALA665PRO	N/A
dbSNP	rs15251	Polymorphism	p.ALA1353VAL	N/A
dbSNP	rs75181211	Polymorphism	p.ALA378VAL	N/A
dbSNP	rs1136103	Polymorphism	p.PRO1139ARG	N/A
dbSNP	rs114326915	Polymorphism	p.SER410LEU	N/A
dbSNP	rs114689020	Polymorphism	p.SER922LEU	N/A
dbSNP	rs7713638	Polymorphism	p.VAL887ALA	N/A
OMIM	606847.0007	Disease	p.ARG911TER	TREACHER COLLINS SYNDROME
OMIM	606847.0001	Disease	p.GLN252TER	TREACHER COLLINS SYNDROME
OMIM	606847.0005	Disease	p.TYR50CYS	TREACHER COLLINS SYNDROME

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