CHEK1 D130Y
Gene Variant Detail

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Gene CHEK1
Variant D130Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK1 D130Y lies within the protein kinase domain of the Chek1 protein (UniProt.org). D130Y has not been characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
Associated Drug Resistance
Category Variants Paths

CHEK1 mutant CHEK1 D130Y

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Transcript NM_001114122.3
gDNA chr11:g.125629424G>T
cDNA c.388G>T
Protein p.D130Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001274.5 chr11:g.125629424G>T c.388G>T p.D130Y RefSeq GRCh38/hg38
XM_047426311.1 chr11:g.125629424G>T c.388G>T p.D130Y RefSeq GRCh38/hg38
NM_001114121 chr11:g.125629424G>T c.388G>T p.D130Y RefSeq GRCh38/hg38
NM_001114122.2 chr11:g.125629424G>T c.388G>T p.D130Y RefSeq GRCh38/hg38
XM_024448337.2 chr11:g.125629424G>T c.388G>T p.D130Y RefSeq GRCh38/hg38
XM_017017146 chr11:g.125629424G>T c.388G>T p.D130Y RefSeq GRCh38/hg38
XM_017017146.2 chr11:g.125629424G>T c.388G>T p.D130Y RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125629424G>T c.388G>T p.D130Y RefSeq GRCh38/hg38
NM_001114122.3 chr11:g.125629424G>T c.388G>T p.D130Y RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125629424G>T c.388G>T p.D130Y RefSeq GRCh38/hg38
NM_001274 chr11:g.125629424G>T c.388G>T p.D130Y RefSeq GRCh38/hg38
NM_001244846 chr11:g.125629424G>T c.388G>T p.D130Y RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125629424G>T c.388G>T p.D130Y RefSeq GRCh38/hg38
NM_001114122 chr11:g.125629424G>T c.388G>T p.D130Y RefSeq GRCh38/hg38
XM_024448337.1 chr11:g.125629424G>T c.388G>T p.D130Y RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125629424G>T c.388G>T p.D130Y RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125629424G>T c.388G>T p.D130Y 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
CHEK1 D130Y unknown