Results for the protein: A8MXD5

Results for the Protein: A8MXD5

205780623

389207

GRXCR1

NCBI, UniProt

GRCR1_HUMAN RecName: Full=Glutaredoxin domain-containing cysteine-rich protein 1

Known Diseases associated with this Protein:
DEAFNESS, AUTOSOMAL RECESSIVE 25
DEAFNESS, AUTOSOMAL RECESSIVE, 25 (DFNB25)

6

4

2

2

6

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Default View: GRX_GRXh_1_2_like - cd03419 GRX_GRX_like - cd03031 GRX_family - cd02066 Glutaredoxin - pfam00462	Swiss-Prot Protein: A8MXD5 Identical to: NP_001073945 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GRX_GRX_like	cd03031	4.1e-85	138	285
GRX_GRXh_1_2_like	cd03419	7.8e-05	138	226
Glutaredoxin	pfam00462	4.1e-08	139	208

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs57655409	Polymorphism	p.ALA47VAL	N/A
Swiss-Prot	VAR_063164	Disease	p.ARG138CYS	Deafness, autosomal recessive, 25 (DFNB25)
dbSNP	rs78136490	Polymorphism	p.GLU9LYS	N/A
Swiss-Prot	VAR_063161	Polymorphism	p.GLY51GLU	N/A
Swiss-Prot	VAR_063162	Disease	p.GLY64SER	Deafness, autosomal recessive, 25 (DFNB25)
Swiss-Prot	VAR_063163	Polymorphism	p.GLY91VAL	N/A
Swiss-Prot	VAR_063165	Disease	p.PHE153VAL	Deafness, autosomal recessive, 25 (DFNB25)
Swiss-Prot	VAR_063160	Disease	p.PRO38LEU	Deafness, autosomal recessive, 25 (DFNB25)
OMIM	613283.0004	Disease	p.ARG138CYS	DEAFNESS, AUTOSOMAL RECESSIVE 25
OMIM	613283.0003	Disease	p.GLN77TER	DEAFNESS, AUTOSOMAL RECESSIVE 25

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