Results for the protein: NP

Results for the Protein: NP_000162

119372310

2741

GLRA1

NCBI

glycine receptor subunit alpha-1 isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
HYPEREKPLEXIA 1, AUTOSOMAL RECESSIVE

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Default View: Neur_chan_LBD - pfam02931 Neur_chan_memb - pfam02932	RefSeq Protein: NP_000162 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Neur_chan_memb	pfam02932	4.4e-60	255	435

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	138491.0002	Disease	p.ARG271GLN	HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM	138491.0001	Disease	p.ARG271LEU	HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM	138491.0005	Disease	p.GLN266HIS	HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM	138491.0003	Disease	p.ILE244ASN	HYPEREKPLEXIA 1, AUTOSOMAL RECESSIVE
OMIM	138491.0006	Disease	p.LYS276GLU	HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM	138491.0009	Disease	p.MET147VAL	HYPEREKPLEXIA 1, AUTOSOMAL RECESSIVE
OMIM	138491.0007	Disease	p.PRO250THR	HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM	138491.0012	Disease	p.SER231ARG	HYPEREKPLEXIA 1, AUTOSOMAL RECESSIVE
OMIM	138491.0015	Disease	p.SER267ASN	HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM	138491.0014	Disease	p.SER296TER	HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM	138491.0004	Disease	p.TYR279CYS	HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
OMIM	138491.0010	Disease	p.TYR202TER	HYPEREKPLEXIA 1, AUTOSOMAL RECESSIVE
OMIM	138491.0011	Disease	p.VAL260MET	HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT

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