Whirlin

Alternative Names

  • WHRN
  • CASK-Interacting Protein, 98-kD
  • CIP98
  • KIAA1526
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OMIM Number

607928

NCBI Gene ID

25861

Uniprot ID

Q9P202

Length

103,423 bases

No. of Exons

21

No. of isoforms

4

Protein Name

Whirlin

Molecular Mass

96558

Amino Acid Count

907

Genomic Location

chr9:114,402,078-114,505,500

Gene Map Locus
9q32

Description

This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. 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_015404.4:c.1267C>TPalestine; United Arab...NC_000009.12:g.114424483G>APathogenicNG_016700.1:g.85974C>T; NM_015404.4:c.1267C>T; NP_056219.3:p.Arg423Ter39751725545645
NM_015404.4:c.2140C>TSaudi ArabiaNC_000009.12:g.114406451G>ALikely PathogenicLikely PathogenicDeafness, Autosomal Recessive 31NG_016700.1:g.104006C>T; NM_015404.4:c.2140C>T; NP_056219.3:p.Gln714Ter3061951
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