We’re improving your experience!

Starting April 21, you’ll be asked to log in or sign up for a free account after viewing 10 content pages each month.

Don’t worry—creating an account is quick and easy, and it comes with added benefits! Once logged in, you’ll not only continue accessing the content you already enjoy, but you’ll also unlock exclusive features like interactive donut plots for variant protein effects and variant impacts across the gene.

Stay tuned for these updates, and thank you for being part of our community!

CDKN2A H83Q - Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene CDKN2A
Variant H83Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A H83Q lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). H83Q has been identified in sequencing studies (PMID: 28506684, PMID: 12117769), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jan 2025).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A H83Q

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_000077.5
gDNA chr9:g.21971110G>T
cDNA c.249C>A
Protein p.H83Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517676.3 chr9:g.21971110G>T c.249C>A p.H83Q RefSeq GRCh38/hg38
NM_000077 chr9:g.21971110G>T c.249C>A p.H83Q RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971110G>T c.249C>A p.H83Q RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971110G>T c.249C>A p.H83Q RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971110G>T c.249C>A p.H83Q RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971110G>T c.249C>A p.H83Q RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971110G>T c.249C>A p.H83Q RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971110G>T c.249C>A p.H83Q RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971110G>T c.249C>A p.H83Q RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971110G>T c.249C>A p.H83Q RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971110G>T c.249C>A p.H83Q RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971110G>T c.249C>A p.H83Q RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries