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Gene | ROS1 |
Variant | Y382H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ROS1 Y382H lies within the extracellular domain of the Ros1 protein (UniProt.org). Y382H has been identified in sequencing studies (PMID: 29981866, PMID: 38159331), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ROS1 mutant ROS1 Y382H |
Transcript | NM_002944.3 |
gDNA | chr6:g.117394182A>G |
cDNA | c.1144T>C |
Protein | p.Y382H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002944.3 | chr6:g.117394182A>G | c.1144T>C | p.Y382H | RefSeq | GRCh38/hg38 |
XM_011536051.3 | chr6:g.117394182A>G | c.1144T>C | p.Y382H | RefSeq | GRCh38/hg38 |
XM_017011172 | chr6:g.117394182A>G | c.1144T>C | p.Y382H | RefSeq | GRCh38/hg38 |
XM_017011173 | chr6:g.117394182A>G | c.1144T>C | p.Y382H | RefSeq | GRCh38/hg38 |
NM_002944 | chr6:g.117394182A>G | c.1144T>C | p.Y382H | RefSeq | GRCh38/hg38 |
NM_002944.2 | chr6:g.117394182A>G | c.1144T>C | p.Y382H | RefSeq | GRCh38/hg38 |
XM_017011173.2 | chr6:g.117394182A>G | c.1144T>C | p.Y382H | RefSeq | GRCh38/hg38 |
XM_017011173.1 | chr6:g.117394182A>G | c.1144T>C | p.Y382H | RefSeq | GRCh38/hg38 |
XM_011536051 | chr6:g.117394182A>G | c.1144T>C | p.Y382H | RefSeq | GRCh38/hg38 |
XM_017011172.1 | chr6:g.117394182A>G | c.1144T>C | p.Y382H | RefSeq | GRCh38/hg38 |
XM_017011172.2 | chr6:g.117394182A>G | c.1144T>C | p.Y382H | RefSeq | GRCh38/hg38 |
XM_011536051.2 | chr6:g.117394182A>G | c.1144T>C | p.Y382H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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