Results for the protein: Q8WXD0

Results for the Protein: Q8WXD0

21362625

122042

RXFP2

NCBI, UniProt

RXFP2_HUMAN RecName: Full=Relaxin receptor 2; AltName: Full=G-protein coupled receptor 106; AltName: Full=G-protein coupled receptor affecting testicular descent; AltName: Full=Leucine-rich repeat-containing G-protein coupled receptor 8; AltName: Full=Relaxin family peptide receptor 2

Known Diseases associated with this Protein:
CRYPTORCHIDISM (CRYPTO)

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Tips:

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Default View: Ldl_recept_a - pfam00057 LDLa - smart00192 LDLa - cd00112 LRR - smart00370 LRR_TYP - smart00369 7tm_1 - pfam00001	Swiss-Prot Protein: Q8WXD0 Identical to: NP_570718 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ldl_recept_a	pfam00057	2.2e-09	43	80
7tm_1	pfam00001	5.5e-09	441	691
LDLa	smart00192	2.5e-11	44	77
LRR_TYP	smart00369	5.4e-06	184	207
LRR	smart00370	5.4e-06	184	207
LRR_TYP	smart00369	0.00021	304	327
LRR	smart00370	0.00021	304	327

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs17076657	Polymorphism	p.ILE604VAL	N/A
Swiss-Prot	VAR_015386	Disease	p.THR222PRO	Cryptorchidism (CRYPTO)

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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