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Results for the Protein: Q7Z4S6
50400977

KI21A_HUMAN RecName: Full=Kinesin-like protein KIF21A; AltName: Full=Kinesin-like protein KIF2; AltName: Full=Renal carcinoma antigen NY-REN-62

Known Diseases associated with this Protein:
  CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES 1 (CFEOM1)
  FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
  FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B
  FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, INCLUDED
14
1
7
1
7
Tips:
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Default View:

KIP1 - COG5059
KISc_BimC_Eg5 - cd01364
KISc_KHC_KIF5 - cd01369
KISc_KLP2_like - cd01373
KISc_KIF23_like - cd01368
KISc_KIF4 - cd01372
KISc_KIF3 - cd01371
KISc_KIF2_like - cd01367
KISc_KIF1A_KIF1B - cd01365
KISc - smart00129
KISc_KID_like - cd01376
KISc_KIF9_like - cd01375
KISc - cd00106
KISc_KIP3_like - cd01370
KISc_CENP_E - cd01374
KISc_C_terminal - cd01366
Motor_domain - cd01363
Kinesin - pfam00225
COG2319 - COG2319
WD40 - smart00320
WD40 - pfam00400
WD40 - cd00200


Swiss-Prot Protein: Q7Z4S6
Identical to: NP_001166935
   Default View:




















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
KISc_KHC_KIF5cd013698.4e-877371
KISc_KIF1A_KIF1Bcd013656.2e-998378
KISc_KIF2_likecd013673.8e-668369
KISc_KIF3cd013711.5e-1048371
KISc_KIF23_likecd013681.7e-168369
KISc_KLP2_likecd013732.3e-858371
KISc_KIF4cd013726.5e-2668372
KISccd001061.5e-1319369
KISc_KIP3_likecd013704e-939371
KISc_KIF9_likecd013754.3e-509369
KISc_CENP_Ecd013747e-809371
KISc_KID_likecd013763e-779369
KISc_C_terminalcd013661.1e-10411374
Motor_domaincd013637.4e-6812350
WD40cd002001e-6113391652
KIP1COG50599.3e-871583
Kinesinpfam002251e-17815371
COG2319COG23193.3e-2311821674
WD40pfam004003.4e-0813371373
WD40pfam004002.1e-0514821523
WD40pfam004009.9e-0515741612
WD40pfam004003.9e-0716161652
KIScsmart001295.5e-1529378
WD40smart003205.5e-0713361373
WD40smart003202.8e-0515721612
WD40smart003208.9e-0616151652

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_019402Diseasep.ARG954GLNCongenital fibrosis of extraocular muscles 1 (CFEOM1)
Swiss-ProtVAR_019403Diseasep.ARG954TRPCongenital fibrosis of extraocular muscles 1 (CFEOM1)
dbSNPrs75223821 Polymorphismp.GLU1237ASPN/A
Swiss-ProtVAR_019404Diseasep.ILE1010THRCongenital fibrosis of extraocular muscles 1 (CFEOM1)
Swiss-ProtVAR_019400Diseasep.MET947ARGCongenital fibrosis of extraocular muscles 1 (CFEOM1)
Swiss-ProtVAR_019399Diseasep.MET356THRCongenital fibrosis of extraocular muscles 1 (CFEOM1)
Swiss-ProtVAR_027021Diseasep.MET947THRCongenital fibrosis of extraocular muscles 1 (CFEOM1)
Swiss-ProtVAR_019401Diseasep.MET947VALCongenital fibrosis of extraocular muscles 1 (CFEOM1)
OMIM608283.0002 Diseasep.ARG954GLNFIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1||FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, INCLUDED
OMIM608283.0001 Diseasep.ARG954TRPFIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1||FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, INCLUDED
OMIM608283.0003 Diseasep.ILE1010THRFIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
OMIM608283.0006 Diseasep.MET947ARGFIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
OMIM608283.0007 Diseasep.MET947ILEFIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B
OMIM608283.0004 Diseasep.MET356THRFIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
OMIM608283.0005 Diseasep.MET947VALFIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1



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