Transcript #00008391

Transcript name integrin beta 1 binding protein (melusin) 2
Gene name ITGB1BP2 (integrin beta 1 binding protein (melusin) 2)
Chromosome X
Transcript - NCBI ID NM_012278.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_036410.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

43 entries on 1 page. Showing entries 1 - 43.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-13A>G r.(=) p.(=)
?/? c.39C>T r.(=) p.(=)
?/? c.64+30G>T r.(=) p.(=)
?/? c.114+3_114+5del r.spl? p.?
?/? c.115-43T>G r.(=) p.(=)
?/? c.115-3C>T r.spl? p.?
?/? c.137G>A r.(?) p.(Arg46Gln)
?/? c.164_165insTT r.(?) p.(Ile56Serfs*36)
?/? c.171+34A>G r.(=) p.(=)
?/? c.233C>T r.(?) p.(Pro78Leu)
?/? c.294G>C r.(?) p.(Glu98Asp)
?/? c.301C>T r.(?) p.(Arg101Cys)
?/? c.304C>T r.(?) p.(Arg102Trp)
?/? c.317+11G>T r.(=) p.(=)
?/? c.317+13A>C r.(=) p.(=)
?/? c.317+14G>C r.(=) p.(=)
?/? c.318-48C>T r.(=) p.(=)
?/? c.318-36A>C r.(=) p.(=)
?/? c.344C>T r.(?) p.(Pro115Leu)
?/? c.413-43G>C r.(=) p.(=)
?/? c.413-35A>T r.(=) p.(=)
?/? c.413-28A>C r.(=) p.(=)
?/? c.430C>T r.(?) p.(Arg144Trp)
?/? c.468+50G>T r.(=) p.(=)
?/? c.469-15C>T r.(=) p.(=)
?/? c.510C>A r.(?) p.(Tyr170*)
?/? c.527G>A r.(?) p.(Arg176Gln)
?/? c.539+21_539+28del r.(=) p.(=)
?/? c.539+33A>G r.(=) p.(=)
?/? c.540-32G>A r.(=) p.(=)
?/? c.540-8T>C r.(=) p.(=)
?/? c.634A>T r.(?) p.(Lys212*)
?/? c.678T>C r.(=) p.(=)
?/? c.753+1G>A r.spl? p.?
?/? c.758A>G r.(?) p.(His253Arg)
?/? c.779G>A r.(?) p.(Gly260Asp)
?/? c.825C>G r.(?) p.(Asn275Lys)
?/? c.923C>G r.(?) p.(Ala308Gly)
?/? c.955T>C r.(=) p.(=)
?/? c.982G>A r.(?) p.(Asp328Asn)
?/? c.1036G>C r.(?) p.(Gly346Arg)
?/? c.*36A>G r.(=) p.(=)
?/? c.*47A>G r.(=) p.(=)
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