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Results for the Protein: Q9NQX1
212276458

PRDM5_HUMAN RecName: Full=PR domain zinc finger protein 5; AltName: Full=PR domain-containing protein 5

Known Diseases associated with this Protein:
  BRITTLE CORNEA SYNDROME 2
  BRITTLE CORNEA SYNDROME 2 (BCS2)
3
0
2
0
1
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Default View:

SET - smart00317
SET - pfam00856
ZnF_C2H2 - smart00355
zf-C2H2 - pfam00096


Swiss-Prot Protein: Q9NQX1
Identical to: NP_061169
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
zf-C2H2pfam000969e-05199221
zf-C2H2pfam000960.00016234256
zf-C2H2pfam000960.00012262287
zf-C2H2pfam000960.00046295317
zf-C2H2pfam000960.00083320342
zf-C2H2pfam000960.00017376398
zf-C2H2pfam000969.6e-05404426
zf-C2H2pfam000961.1e-05432455
zf-C2H2pfam000963.2e-06461483
zf-C2H2pfam000963.7e-05489511
zf-C2H2pfam000963e-07517539
zf-C2H2pfam000961.7e-05545567
zf-C2H2pfam000969.2e-05573595
SETsmart003176.8e-069123
ZnF_C2H2smart003550.00043167190
ZnF_C2H2smart003550.00021262287
ZnF_C2H2smart003552.9e-05295317
ZnF_C2H2smart003550.0001320342
ZnF_C2H2smart003556.5e-05376398
ZnF_C2H2smart003550.00011404426
ZnF_C2H2smart003553.9e-05432455
ZnF_C2H2smart003551.4e-05461483
ZnF_C2H2smart003550.00021489511
ZnF_C2H2smart003558.9e-06517539
ZnF_C2H2smart003551.4e-05545567
ZnF_C2H2smart003550.00099573595

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_066393Diseasep.TYR107CYSBrittle cornea syndrome 2 (BCS2)
OMIM614161.0002 Diseasep.ARG590TERBRITTLE CORNEA SYNDROME 2
OMIM614161.0004 Diseasep.TYR107CYSBRITTLE CORNEA SYNDROME 2



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