All transcript variants in gene BTK

BTKbase is part of the IDbases
Information The variants shown are described using the NM_000061.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

ClassClinical     

Protein     

VariO/DNA     

VariO/RNA     

VariO/Protein     

P-domain     

Protein level     

mRNA level     

Enzyme activity     

CpG     

Codon change     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. 2 c.55A>T r.(55a>u) - p.(Lys19*) DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - - - - aaa -> taa; 1 g.100630218T>A g.101375230T>A AAA/TAA 187 - BTK_000269 - PubMed: Moschese, V 2000, IDbase_AccNr: A0692 - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/. 2 c.55A>T r.(55a>u) - p.(Lys19*) DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - reduced - - aaa -> taa; 1 g.100630218T>A g.101375230T>A AAA>TAA [187] - BTK_000269 - PubMed: Vorechovsky, I 1997, IDbase_AccNr: A0225, ESID IT 0231 M85 G1 - - Unknown - - - 0 - Gerard C.P. Schaafsma
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