Results for the protein: Q2YD98

Results for the Protein: Q2YD98

296434546

57654

UVSSA

NCBI, UniProt

UVSSA_HUMAN RecName: Full=UV-stimulated scaffold protein A

Known Diseases associated with this Protein:
UV-SENSITIVE SYNDROME 3
UV-SENSITIVE SYNDROME 3 (UVSS3)

3

4

2

2

3

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Default View: DUF2043 - pfam09740	Swiss-Prot Protein: Q2YD98 Identical to: NP_065945 Default View:

Domains found on the Protein

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

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2276904	Polymorphism	p.ARG391HIS	N/A
dbSNP	rs28522910	Polymorphism	p.PRO620LEU	N/A
Swiss-Prot	VAR_038499	Polymorphism	p.ARG391HIS	N/A
Swiss-Prot	VAR_067798	Disease	p.CYS32ARG	UV-sensitive syndrome 3 (UVSS3)
Swiss-Prot	VAR_038500	Polymorphism	p.PRO620LEU	N/A
OMIM	614632.0003	Disease	p.CYS32ARG	UV-SENSITIVE SYNDROME 3
OMIM	614632.0001	Disease	p.LYS123TER	UV-SENSITIVE SYNDROME 3

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