Gene Variant Detail

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Gene PBRM1
Variant Y106*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions PBRM1 Y106* results in a premature truncation of the Pbrm1 protein at amino acid 106 of 1689 (UniProt.org). Y106* has not been characterized, however, due to the effects of other truncation mutations downstream of Y106 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function.
Associated Drug Resistance
Category Variants Paths

PBRM1 mutant PBRM1 inact mut PBRM1 Y106*

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Transcript NM_018313.5
gDNA chr3:g.52668564A>T
cDNA c.318T>A
Protein p.Y106*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017006750 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_011533903.3 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_011533902.4 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001394867.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405605.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006741.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001394872.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006753.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405624.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001350078.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001394874.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001394871.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001350075.2 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405570.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_005265280 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405612.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006739 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006739.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006755 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405610.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405553.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001400472.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_047448442.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006732.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_047448462.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405603.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405595.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405581.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006736.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006740.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405563.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001366075.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405559.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405618.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405556.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405599.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405614.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001394875.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006754.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_011533900 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_047448446.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006762 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006759.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006726 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_047448460.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405607.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006751 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001400504.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006737.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001400501.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405606.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405580.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001350075.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405555.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405597.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006757 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001400490.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405621.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405638.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001350074.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001400487.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001400481.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001394880.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405576.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006764.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001394876.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001394873.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001400470.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_005265283 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405613.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006756.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006729.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405633.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_005265279 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405631.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405582.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405602.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_018313.4 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405598.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_011533900.4 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006738.2 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006756 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001400500.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405616.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006761 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405626.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405593.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006745 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006735.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405557.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006764 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405571.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006726.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006743 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006728.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405611.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405565.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405630.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001366072.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006746.2 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405620.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006749.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405617.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_047448448.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405623.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405573.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405578.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006746 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405586.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001400471.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405590.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405636.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405622.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_011533902.3 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_181042.4 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006740 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001400475.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405627.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006758 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405604.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_047448449.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_181042.5 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001350079.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405609.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405632.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001350076.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001394878.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_011533903.4 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001350076.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405601.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405552.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001394868.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405567.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405587.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405615.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006743.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006760 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001400484.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405558.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006766 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006727 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_047448456.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006736 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006735 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006742 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405594.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_011533900.3 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405569.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006727.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006748 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_005265280.3 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405628.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006725 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405572.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_011533903 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006729 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006737 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405554.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006741 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001394879.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405629.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_047448450.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006745.2 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405579.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001350078.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006725.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006727.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405635.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006732 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405639.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405588.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006728 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006765 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_047448451.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006747 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006726.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001400496.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405641.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405568.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006748.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006753 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001350079.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006751.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405640.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001394881.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006742.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001394877.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001366070.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_005265279.5 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405561.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405634.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405564.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006752 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001400473.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006755.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006752.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405619.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_018313 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_047448447.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001394869.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001350074.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006749 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006747.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006738 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006759 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405643.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405642.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001366071.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006758.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006754 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405577.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_005265282.4 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_047448443.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006742.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_011533902 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405584.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405560.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_018313.5 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001400479.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006725.2 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006750.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001400474.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405575.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405592.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006741.3 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_017006728.1 chr3:g.52668627A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405589.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405583.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
XM_005265282 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38
NM_001405585.1 chr3:g.52668564A>T c.318T>A p.Y106* RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PBRM1 Y106* clear cell renal cell carcinoma predicted - sensitive Ipilimumab + Nivolumab Case Reports/Case Series Actionable In a clinical study, Opdivo (nivolumab) and Yervoy (ipilimumab) combination treatment resulted in complete response in a patient with renal clear cell carcinoma harboring PBRM1 Y106* (PMID: 29301960). 29301960