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 CTNNB1
Variant R535Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CTNNB1 R535Q lies within ARM repeat 10 of the Ctnnb1 protein (UniProt.org). R535Q has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance
Category Variants Paths

CTNNB1 mutant CTNNB1 R535Q

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_001098210.2
gDNA chr3:g.41234218G>A
cDNA c.1604G>A
Protein p.R535Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001098210 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
XM_006712983.2 chr3:g.41234239_41234240delGTinsAA c.1604_1605delGTinsAA p.R535Q RefSeq GRCh38/hg38
NM_001098209 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
XM_017005738.1 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
XM_017005738 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
NM_001330729.1 chr3:g.41234239_41234240delGTinsAA c.1604_1605delGTinsAA p.R535Q RefSeq GRCh38/hg38
XM_024453357.1 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
XM_047447483.1 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
NM_001904.3 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
XM_047447482.1 chr3:g.41234239_41234240delGTinsAA c.1604_1605delGTinsAA p.R535Q RefSeq GRCh38/hg38
NM_001098209.1 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
XM_047447481.1 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
XM_047447479.1 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
XM_006712985 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
XM_006712984 chr3:g.41234239_41234240delGTinsAA c.1604_1605delGTinsAA p.R535Q RefSeq GRCh38/hg38
XM_006712983 chr3:g.41234239_41234240delGTinsAA c.1604_1605delGTinsAA p.R535Q RefSeq GRCh38/hg38
XM_024453359.1 chr3:g.41234239_41234240delGTinsAA c.1604_1605delGTinsAA p.R535Q RefSeq GRCh38/hg38
NM_001904 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
XM_024453356.1 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
XM_024453358.1 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
NM_001098210.2 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
NM_001098210.1 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
XM_017005738.2 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
XM_047447478.1 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
NM_001098209.2 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
XM_047447477.1 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
XM_006712985.1 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
XM_006712985.2 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
NM_001330729.2 chr3:g.41234239_41234240delGTinsAA c.1604_1605delGTinsAA p.R535Q RefSeq GRCh38/hg38
NM_001904.4 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
XM_024453360.1 chr3:g.41234239_41234240delGTinsAA c.1604_1605delGTinsAA p.R535Q RefSeq GRCh38/hg38
XM_005264886 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
XM_047447480.1 chr3:g.41234218G>A c.1604G>A p.R535Q RefSeq GRCh38/hg38
XM_024453356.2 chr3:g.41234218G>A c.1604G>A p.R535Q 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
CTNNB1 R535Q unknown