Results for the protein: O75695

Results for the Protein: O75695

60416394

6102

RP2

NCBI, UniProt

XRP2_HUMAN RecName: Full=Protein XRP2

Known Diseases associated with this Protein:
RETINITIS PIGMENTOSA 2
RETINITIS PIGMENTOSA 2 (RP2)

15

4

5

1

13

Tips:

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Default View: TBCC - pfam07986 CARP - smart00673	Swiss-Prot Protein: O75695 Identical to: NP_008846 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CARP	smart00673	1.6e-13	67	104
CARP	smart00673	4.2e-08	105	139

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_026058	Disease	p.ARG118CYS	Retinitis pigmentosa 2 (RP2)
Swiss-Prot	VAR_008499	Disease	p.ARG118HIS	Retinitis pigmentosa 2 (RP2)
Swiss-Prot	VAR_018072	Disease	p.ARG118LEU	Retinitis pigmentosa 2 (RP2)
dbSNP	rs1805147	Polymorphism	p.ARG282TRP	N/A
Swiss-Prot	VAR_014536	Polymorphism	p.ASP338TYR	N/A
Swiss-Prot	VAR_008498	Disease	p.CYS108GLY	Retinitis pigmentosa 2 (RP2)
Swiss-Prot	VAR_068353	Disease	p.CYS108TYR	Retinitis pigmentosa 2 (RP2)
Swiss-Prot	VAR_018069	Disease	p.CYS67TYR	Retinitis pigmentosa 2 (RP2)
Swiss-Prot	VAR_018070	Disease	p.CYS86TYR	Retinitis pigmentosa 2 (RP2)
Swiss-Prot	VAR_018074	Disease	p.GLU138GLY	Retinitis pigmentosa 2 (RP2)
Swiss-Prot	VAR_008500	Disease	p.LEU253ARG	Retinitis pigmentosa 2 (RP2)
Swiss-Prot	VAR_018075	Disease	p.LEU188PRO	Retinitis pigmentosa 2 (RP2)
Swiss-Prot	VAR_053961	Polymorphism	p.LYS144ARG	N/A
Swiss-Prot	VAR_018071	Polymorphism	p.PRO95LEU	N/A
OMIM	300757.0003	Disease	p.ARG118HIS	RETINITIS PIGMENTOSA 2
OMIM	300757.0006	Disease	p.ARG118LEU	RETINITIS PIGMENTOSA 2
OMIM	300757.0008	Disease	p.ARG120TER	RETINITIS PIGMENTOSA 2
OMIM	300757.0002	Disease	p.GLN26TER	RETINITIS PIGMENTOSA 2
OMIM	300757.0004	Disease	p.TYR151TER	RETINITIS PIGMENTOSA 2

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