Details for: ZSWIM6
Associated with
Other Information
Genular Protein ID: 449369285
Symbol: ZSWM6_HUMAN
Name: Zinc finger SWIM domain-containing protein 6
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15372022
Title: The DNA sequence and comparative analysis of human chromosome 5.
PubMed ID: 15372022
DOI: 10.1038/nature02919
PubMed ID: 10997877
Title: Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
PubMed ID: 10997877
PubMed ID: 25105228
Title: Exome Sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.
PubMed ID: 25105228
PubMed ID: 26566883
Title: Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
PubMed ID: 26566883
PubMed ID: 29198722
Title: A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
PubMed ID: 29198722
Sequence Information:
- Length: 1215
- Mass: 133470
- Checksum: 828B5AA0644EECE0
- Sequence:
MAERGQQPPP AKRLCCRPGG GGGGGGSSGG GGGAGGGYSS ACRPGPRAGG AAAAAACGGG AALGLLPPGK TQSPESLLDI AARRVAEKWP FQRVEERFER IPEPVQRRIV YWSFPRSERE ICMYSSFNTG GGAAGGPGDD SGGGGGAGGG GGGGSSSSPA ATSAAATSAA AAAAAAAAAA AAAAGAGAPS VGAAGAADGG DETRLPFRRG IALLESGCVD NVLQVGFHLS GTVTEPAIQS EPETVCNVAI SFDRCKITSV TCSCGNKDIF YCAHVVALSL YRIRKPDQVK LHLPISETLF QMNRDQLQKF VQYLITVHHT EVLPTAQKLA DEILSQNSEI NQVHGAPDPT AGASIDDENC WHLDEEQVQE QVKLFLSQGG YHGSGKQLNL LFAKVREMLK MRDSNGARML TLITEQFMAD PRLSLWRQQG TAMTDKYRQL WDELGALWMC IVLNPHCKLE QKASWLKQLK KWNSVDVCPW EDGNHGSELP NLTNALPQGA NANQDSSNRP HRTVFTRAIE ACDLHWQDSH LQHIISSDLY TNYCYHDDTE NSLFDSRGWP LWHEHVPTAC ARVDALRSHG YPREALRLAI AIVNTLRRQQ QKQLEMFRTQ KKELPHKNIT SITNLEGWVG HPLDPVGTLF SSLMEACRID DENLSGFSDF TENMGQCKSL EYQHLPAHKF LEEGESYLTL AVEVALIGLG QQRIMPDGLY TQEKVCRNEE QLISKLQEIE LDDTLVKIFR KQAVFLLEAG PYSGLGEIIH RESVPMHTFA KYLFTSLLPH DAELAYKIAL RAMRLLVLES TAPSGDLTRP HHIASVVPNR YPRWFTLSHI ESQQCELAST MLTAAKGDVR RLETVLESIQ KNIHSSSHIF KLAQDAFKIA TLMDSLPDIT LLKVSLELGL QVMRMTLSTL NWRRREMVRW LVTCATEVGV YALDSIMQTW FTLFTPTEAT SIVATTVMSN STIVRLHLDC HQQEKLASSA RTLALQCAMK DPQNCALSAL TLCEKDHIAF ETAYQIVLDA ATTGMSYTQL FTIARYMEHR GYPMRAYKLA TLAMTHLNLS YNQDTHPAIN DVLWACALSH SLGKNELAAI IPLVVKSVKC ATVLSDILRR CTLTTPGMVG LHGRRNSGKL MSLDKAPLRQ LLDATIGAYI NTTHSRLTHI SPRHYSEFIE FLSKARETFL MAHDGHIQFT QFIDNLKQIY KGKKKLMMLV RERFG
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.