Connector Enhancer of Kinase Suppressor of Ras 1

Alternative Names

  • CNKSR1
  • Connector Enhancer of KSR 1
  • CNK, Drosophila, Homolog of
  • CNK1
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OMIM Number

603272

NCBI Gene ID

10256

Uniprot ID

Q969H4

Length

12,394 bases

No. of Exons

21

No. of isoforms

2

Protein Name

Connector enhancer of kinase suppressor of ras 1

Molecular Mass

79706 Da

Amino Acid Count

720

Genomic Location

chr1:26,177,491-26,189,884

Gene Map Locus
1p36.11

Description

This gene encodes a protein containing several motifs involved in protein-protein interaction, including PDZ, PH (Pleckstrin homology), and SAM (sterile alpha motif) domains. The encoded protein acts as a scaffold component for receptor tyrosine kinase signaling and may mediate crosstalk between different signaling pathways. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006314.3:c.439C>TSaudi ArabiaNC_000001.11:g.26181903C>TUncertain SignificanceCNKSR1 Associated Intellectual DisabilityNG_047117.1:g.9414C>T; NM_006314.3:c.439C>T; NP_006305.2:p.Arg147Ter780235575
NM_006314.3:c.926+1G>ASaudi ArabiaNC_000001.11:g.26184142G>ALikely PathogenicCNKSR1 Associated Intellectual DisabilityNG_047117.1:g.11653G>A; NM_006314.3:c.926+1G>A868021183
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