Results for the protein: Q02962

Results for the Protein: Q02962

223590261

5076

PAX2

NCBI, UniProt

PAX2_HUMAN RecName: Full=Paired box protein Pax-2

Known Diseases associated with this Protein:
RENAL-COLOBOMA SYNDROME (RCS)

11

6

0

0

17

Tips:

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Default View: PAX - smart00351 PAX - pfam00292 PAX - cd00131 Pax2_C - pfam12403	Swiss-Prot Protein: Q02962 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PAX	pfam00292	2.7e-91	16	140
PAX	smart00351	1.4e-97	16	140
Pax2_C	pfam12403	1.3e-79	301	416

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_068093	Polymorphism	p.ALA160THR	N/A
Swiss-Prot	VAR_012443	Polymorphism	p.ALA334VAL	N/A
Swiss-Prot	VAR_068090	Disease	p.ARG117PRO	Renal-coloboma syndrome (RCS)
Swiss-Prot	VAR_068086	Disease	p.ARG71THR	Renal-coloboma syndrome (RCS)
Swiss-Prot	VAR_068079	Polymorphism	p.GLY24GLU	N/A
Swiss-Prot	VAR_003789	Disease	p.GLY76SER	Renal-coloboma syndrome (RCS)
Swiss-Prot	VAR_068089	Disease	p.GLY84SER	Renal-coloboma syndrome (RCS)
Swiss-Prot	VAR_068080	Disease	p.GLY25VAL	Renal-coloboma syndrome (RCS)
Swiss-Prot	VAR_068081	Disease	p.LEU33ARG	Renal-coloboma syndrome (RCS)
Swiss-Prot	VAR_068085	Disease	p.LEU69PRO	Renal-coloboma syndrome (RCS)
Swiss-Prot	VAR_068091	Disease	p.PRO130HIS	Renal-coloboma syndrome (RCS)
Swiss-Prot	VAR_068092	Disease	p.PRO130SER	Renal-coloboma syndrome (RCS)
Swiss-Prot	VAR_068096	Polymorphism	p.SER387ASN	N/A
Swiss-Prot	VAR_068083	Disease	p.SER61ASN	Renal-coloboma syndrome (RCS)
Swiss-Prot	VAR_068082	Disease	p.SER61ILE	Renal-coloboma syndrome (RCS)
Swiss-Prot	VAR_068095	Polymorphism	p.SER175THR	N/A
Swiss-Prot	VAR_068094	Polymorphism	p.THR164ASN	N/A

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