Gene Variant Detail

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Gene ATM
Variant H1436Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM H1436Y does not lie within any known functional domains of the Atm protein (UniProt.org). H1436Y is associated with retention of Atm expression and phosphorylation in patient samples (PMID: 36555667), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM H1436Y

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Transcript NM_000051.4
gDNA chr11:g.108289671C>T
cDNA c.4306C>T
Protein p.H1436Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000051.3 chr11:g.108289671C>T c.4306C>T p.H1436Y RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108289671C>T c.4306C>T p.H1436Y RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108289671C>T c.4306C>T p.H1436Y RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108289671C>T c.4306C>T p.H1436Y RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108289671C>T c.4306C>T p.H1436Y RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108289671C>T c.4306C>T p.H1436Y RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108289671C>T c.4306C>T p.H1436Y RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108289671C>T c.4306C>T p.H1436Y RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108289671C>T c.4306C>T p.H1436Y RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108289671C>T c.4306C>T p.H1436Y RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108289671C>T c.4306C>T p.H1436Y RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108289671C>T c.4306C>T p.H1436Y RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108289671C>T c.4306C>T p.H1436Y RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108289671C>T c.4306C>T p.H1436Y RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108289671C>T c.4306C>T p.H1436Y RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108289671C>T c.4306C>T p.H1436Y RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108289671C>T c.4306C>T p.H1436Y RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108289671C>T c.4306C>T p.H1436Y RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108289671C>T c.4306C>T p.H1436Y RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108289671C>T c.4306C>T p.H1436Y 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

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  • 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