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@jax.org
Gene | CDK12 |
Variant | E1327D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CDK12 E1327D does not lie within any known functional domains of the Cdk12 protein (UniProt.org). E1327D has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CDK12 mutant CDK12 E1327D |
Transcript | NM_016507.4 |
gDNA | chr17:g.39530824G>C |
cDNA | c.3981G>C |
Protein | p.E1327D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017024746 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
NM_016507.3 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_024450801.1 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524895 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_017024747 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524898 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524903 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524893.3 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524902 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_047436256.1 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524900 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524906.2 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
NM_016507 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524906.3 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_017024749 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524902.2 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524901 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_047436257.1 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524894 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_047436258.1 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524897.2 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_047436259.1 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524893 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524906 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524899.2 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_047436260.1 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524894.2 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524897.3 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524896 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_017024748 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
NM_016507.4 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524898.3 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524895.3 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524905 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_017024747.1 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524897 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524899 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_047436255.1 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_017024745 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_017024744 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524898.2 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524901.2 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524900.2 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524893.2 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524896.2 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524905.2 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_047436261.1 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524903.2 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_017024749.1 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524895.2 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_011524894.3 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
XM_017024748.1 | chr17:g.39530824G>C | c.3981G>C | p.E1327D | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|