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Results for the Protein: NP_001166934
291167760

kinesin-like protein KIF21A isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
  FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B
  FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, INCLUDED
7
1
7
1
0
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

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




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_KIF23_likecd013681.7e-168369
KISc_KLP2_likecd013732.3e-858371
KISc_KIF4cd013726.5e-2668372
KISc_KIF3cd013711.5e-1048371
KISccd001061.5e-1319369
KISc_KIP3_likecd013704e-939371
KISc_KIF9_likecd013754.3e-509369
KISc_KID_likecd013763e-779369
KISc_CENP_Ecd013747e-809371
KISc_C_terminalcd013661.1e-10411374
Motor_domaincd013637.4e-6812350
WD40cd002001e-6113021615
KIP1COG50598.4e-851576
Kinesinpfam002251e-17815371
COG2319COG23196.1e-2111621637
WD40pfam004003.4e-0813001336
WD40pfam004002.1e-0514451486
WD40pfam004009.9e-0515371575
WD40pfam004003.9e-0715791615
KIScsmart001295.5e-1529378
WD40smart003205.5e-0712991336
WD40smart003202.8e-0515351575
WD40smart003208.9e-0615781615

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs75223821 Polymorphismp.GLU1217ASPN/A
OMIM608283.0002 Diseasep.ARG941GLNFIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1||FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, INCLUDED
OMIM608283.0001 Diseasep.ARG941TRPFIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1||FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, INCLUDED
OMIM608283.0003 Diseasep.ILE997THRFIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
OMIM608283.0006 Diseasep.MET934ARGFIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
OMIM608283.0007 Diseasep.MET934ILEFIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B
OMIM608283.0004 Diseasep.MET356THRFIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
OMIM608283.0005 Diseasep.MET934VALFIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1



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