Transcript #00003269

Transcript name bone morphogenetic protein receptor, type II (serine/threonine kinase)
Gene name BMPR2 (bone morphogenetic protein receptor, type II (serine/threonine kinase))
Chromosome 2
Transcript - NCBI ID NM_001204.6
Transcript - Ensembl ID -
Protein - NCBI ID NP_001195.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

15 entries on 1 page. Showing entries 1 - 15.
Legend  

Affects function     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
+/+ c.218C>G p.(Ser73*) stop_gained - 2/12 - r.(?) -
+/+ c.354T>G p.(Cys118Trp) missense_variant - 3/12 probably_damaging(1) r.(?) deleterious(0)
+/+ c.367T>A p.(Cys123Ser) missense_variant - 3/12 probably_damaging(1) r.(?) deleterious(0)
+/+ c.367T>C p.(Cys123Arg) missense_variant - 3/12 probably_damaging(1) r.(?) deleterious(0)
+/+ c.507C>A p.(Cys169*) stop_gained - 4/12 - r.(?) -
+/+ c.631C>T p.(Arg211*) stop_gained - 6/12 - r.(?) -
+/+ c.994C>T p.(Arg332*) stop_gained - 8/12 - r.(?) -
+/+ c.1040G>A p.(Cys347Tyr) missense_variant - 8/12 probably_damaging(0.997) r.(?) deleterious(0)
+/+ c.1454A>G p.(Asp485Gly) missense_variant - 11/12 probably_damaging(0.998) r.(?) deleterious(0)
+/+ c.1471C>T p.(Arg491Trp) missense_variant - 11/12 probably_damaging(1) r.(?) deleterious(0)
+/+ c.1472G>A p.(Arg491Gln) missense_variant - 11/12 probably_damaging(1) r.(?) deleterious(0)
+/+ c.2617C>T p.(Arg873*) stop_gained - 12/13 - r.(?) -
+/+ c.2695C>T p.(Arg899*) stop_gained - 12/13 - r.(?) -
+/+ c.2696G>A p.(Arg899Gln) missense_variant - 12/13 - r.(?) -
+/+ c.2696G>C p.(Arg899Pro) missense_variant - 12/13 - r.(?) -
Legend