PALB2 Q1044H
Gene Variant Detail

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Gene PALB2
Variant Q1044H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 Q1044H lies within WD repeat 4 of the Palb2 protein (UniProt.org). Q1044H demonstrates homology-directed DNA repair activity in cultured cells (PMID: 33811135), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 Q1044H

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Transcript NM_024675.4
gDNA chr16:g.23614073T>A
cDNA c.3132A>T
Protein p.Q1044H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_024675.3 chr16:g.23614073T>A c.3132A>T p.Q1044H RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23614073T>A c.3132A>T p.Q1044H RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23614073T>A c.3132A>T p.Q1044H RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23614073T>A c.3132A>T p.Q1044H 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