Results for the protein: NP

Results for the Protein: NP_001018125

66528888

2177

FANCD2

NCBI

Fanconi anemia group D2 protein isoform b [Homo sapiens]

Known Diseases associated with this Protein:
FANCONI ANEMIA, COMPLEMENTATION GROUP D2

3

5

3

5

0

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Default View:	RefSeq Protein: NP_001018125 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs35495399	Polymorphism	p.GLY901VAL	N/A
dbSNP	rs35782247	Polymorphism	p.LEU456ARG	N/A
dbSNP	rs34557223	Polymorphism	p.LEU446VAL	N/A
dbSNP	rs35546777	Polymorphism	p.LYS865ARG	N/A
dbSNP	rs3864017	Polymorphism	p.PRO714LEU	N/A
OMIM	613984.0001	Disease	p.ARG1236HIS	FANCONI ANEMIA, COMPLEMENTATION GROUP D2
OMIM	613984.0003	Disease	p.ARG302TRP	FANCONI ANEMIA, COMPLEMENTATION GROUP D2
OMIM	613984.0004	Disease	p.GLN320TER	FANCONI ANEMIA, COMPLEMENTATION GROUP D2

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