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Gene PALB2
Variant P812L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 P812L lies within a region of the Palb2 protein required for POLH interaction and POLH DNA synthesis stimulation (UniProt.org). P812L has not been characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, Nov 2023).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 P812L

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Transcript NM_024675.4
gDNA chr16:g.23629719G>A
cDNA c.2435C>T
Protein p.P812L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407302.1 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
NM_024675 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
XM_017023671.1 chr16:g.23629725G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
XM_011545947.2 chr16:g.23629725G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
XM_017023672 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
XM_011545946.2 chr16:g.23629725G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
XM_011545947 chr16:g.23629725G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
XM_017023673 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
XM_011545946 chr16:g.23629725G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
XM_017023671 chr16:g.23629725G>A c.2435C>T p.P812L RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References