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 | ALK |
Variant | E310D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK E310D lies within MAM domain 1 of the Alk protein (UniProt.org). E310D has been identified in sequencing studies (PMID: 28915720), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK E310D |
Transcript | NM_004304.5 |
gDNA | chr2:g.29694872C>G |
cDNA | c.930G>C |
Protein | p.E310D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29694872C>G | c.930G>C | p.E310D | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29694872C>G | c.930G>C | p.E310D | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK E310D | unknown |