Results for the protein: Q8IYD8

Results for the Protein: Q8IYD8

78099254

57697

FANCM

NCBI, UniProt

FANCM_HUMAN RecName: Full=Fanconi anemia group M protein; Short=Protein FACM; AltName: Full=ATP-dependent RNA helicase FANCM; AltName: Full=Fanconi anemia-associated polypeptide of 250 kDa; Short=FAAP250; AltName: Full=Protein Hef ortholog

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

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Tips:

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Default View: SSL2 - COG1061 MPH1 - COG1111 DEXDc - smart00487 ResIII - pfam04851 DEAD - pfam00270 DEXDc - cd00046 HELICc - cd00079 HELICc - smart00490 Helicase_C - pfam00271 MUS81 - COG1948 ERCC4 - pfam02732	Swiss-Prot Protein: Q8IYD8 Identical to: NP_065988 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MPH1	COG1111	9.2e-143	76	653
DEXDc	cd00046	2.3e-19	105	248
HELICc	cd00079	3.7e-24	439	589
MUS81	COG1948	1.9e-09	1780	2046
ResIII	pfam04851	8.1e-14	88	250
DEAD	pfam00270	2.1e-13	92	255
Helicase_C	pfam00271	2.1e-20	504	581
ERCC4	pfam02732	8.4e-08	1819	1902
DEXDc	smart00487	8.1e-25	83	287
HELICc	smart00490	1.1e-20	490	581

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs61748921	Polymorphism	p.ASN947THR	N/A
Swiss-Prot	VAR_061827	Polymorphism	p.ILE208MET	N/A
dbSNP	rs78211950	Polymorphism	p.ILE1460VAL	N/A
dbSNP	rs3736772	Polymorphism	p.PRO1812ALA	N/A
dbSNP	rs10138997	Polymorphism	p.SER175PHE	N/A
dbSNP	rs1367580	Polymorphism	p.VAL878LEU	N/A
OMIM	609644.0001	Disease	p.SER724TER	FANCONI ANEMIA, COMPLEMENTATION GROUP M

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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