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 D74H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A D74H does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D74H retains the ability to inhibit proliferation and cell cycle progression (PMID: 35001868), but has not been fully biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A D74H

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.21971139C>G
cDNA c.220G>C
Protein p.D74H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047422596.1 chr9:g.21970986C>G c.220G>C p.D74H RefSeq GRCh38/hg38
NM_001363763.2 chr9:g.21970986C>G c.220G>C p.D74H RefSeq GRCh38/hg38
XM_047422597.1 chr9:g.21970986C>G c.220G>C p.D74H RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971139C>G c.220G>C p.D74H RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971139C>G c.220G>C p.D74H RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971139C>G c.220G>C p.D74H RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971139C>G c.220G>C p.D74H RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971139C>G c.220G>C p.D74H RefSeq GRCh38/hg38
XM_047422598.1 chr9:g.21970986C>G c.220G>C p.D74H RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971139C>G c.220G>C p.D74H RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971139C>G c.220G>C p.D74H RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971139C>G c.220G>C p.D74H 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