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.119_141del r.(119_141del) - p.(Tyr40*) DNA deletion (VariO:0141) out-of-frame deletion (VariO:0321) protein truncation (VariO:0015) PH - - - - tat -> tag; 2 g.100630132_100630154del g.101375144_101375166del - - BTK_000135 - PubMed: Kanegane, H 2001, IDbase_AccNr: A1026 - - De novo - - - 0 - Gerard C.P. Schaafsma
+?/. 2 c.119_141del r.(119_141del) - p.(Tyr40*) DNA deletion (VariO:0141) out-of-frame deletion (VariO:0321) protein truncation (VariO:0015) PH absent; ref [2] - inactive; ref [2] - - g.100630132_100630154del g.101375144_101375166del - - BTK_000135 - PubMed: Hashimoto, S 1996, PubMed: Futatani, T 1998, IDbase_AccNr: A0296 - - De novo - - - 0 - Gerard C.P. Schaafsma
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