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 ATR
Variant R515H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATR R515H does not lie within any known functional domains of the Atr protein (UniProt.org). R515H has been identified in sequencing studies (PMID: 30181556, PMID: 25344691), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

ATR mutant ATR R515H

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_001184.4
gDNA chr3:g.142559439C>T
cDNA c.1544G>A
Protein p.R515H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001184 chr3:g.142559439C>T c.1544G>A p.R515H RefSeq GRCh38/hg38
XM_047448360.1 chr3:g.142559439C>T c.1544G>A p.R515H RefSeq GRCh38/hg38
XM_047448364.1 chr3:g.142559439C>T c.1544G>A p.R515H RefSeq GRCh38/hg38
XM_011512926 chr3:g.142559439C>T c.1544G>A p.R515H RefSeq GRCh38/hg38
NM_001184.4 chr3:g.142559439C>T c.1544G>A p.R515H RefSeq GRCh38/hg38
XM_011512924 chr3:g.142559439C>T c.1544G>A p.R515H RefSeq GRCh38/hg38
XM_047448361.1 chr3:g.142559439C>T c.1544G>A p.R515H RefSeq GRCh38/hg38
XM_011512924.1 chr3:g.142559439C>T c.1544G>A p.R515H RefSeq GRCh38/hg38
XM_047448363.1 chr3:g.142559439C>T c.1544G>A p.R515H RefSeq GRCh38/hg38
XM_011512924.2 chr3:g.142559439C>T c.1544G>A p.R515H RefSeq GRCh38/hg38
XM_047448362.1 chr3:g.142559439C>T c.1544G>A p.R515H RefSeq GRCh38/hg38
NM_001184.3 chr3:g.142559439C>T c.1544G>A p.R515H 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.

Molecular Profile Protein Effect Treatment Approaches
ATR R515H unknown