Transcript #00006556

Transcript name GATA binding protein 1 (globin transcription factor 1)
Gene name GATA1 (GATA binding protein 1 (globin transcription factor 1))
Chromosome X
Transcript - NCBI ID NM_002049.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002040.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

48 entries on 1 page. Showing entries 1 - 48.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.65C>G r.(?) p.(Ala22Gly)
?/? c.93G>C r.(=) p.(=)
?/? c.113C>T r.(?) p.(Pro38Leu)
?/? c.158C>A r.(?) p.(Ala53Asp)
?/? c.163G>A r.(?) p.(Ala55Thr)
?/? c.174G>A r.(=) p.(=)
?/? c.196G>A r.(?) p.(Ala66Thr)
?/? c.201G>A r.(=) p.(=)
?/? c.210A>G r.(=) p.(=)
?/? c.220+41T>C r.(=) p.(=)
?/? c.302C>T r.(?) p.(Thr101Met)
?/? c.303G>A r.(=) p.(=)
?/? c.339C>T r.(=) p.(=)
?/? c.352C>T r.(?) p.(Pro118Ser)
?/? c.361G>A r.(?) p.(Val121Met)
?/? c.480T>C r.(=) p.(=)
?/? c.501C>T r.(=) p.(=)
?/? c.571C>T r.(?) p.(Arg191Cys)
?/? c.575G>A r.(?) p.(Gly192Glu)
?/? c.594C>A r.(=) p.(=)
?/? c.598+34G>T r.(=) p.(=)
?/? c.598+40G>C r.(=) p.(=)
?/? c.599-25C>T r.(=) p.(=)
?/? c.599-19_599-17del r.(=) p.(=)
?/? c.650G>A r.(?) p.(Arg217Lys)
?/? c.660A>G r.(=) p.(=)
?/? c.678C>T r.(=) p.(=)
?/? c.734A>G r.(?) p.(Lys245Arg)
?/? c.744+5G>A r.spl? p.?
?/? c.745-9G>A r.(=) p.(=)
?/? c.821G>A r.(?) p.(Ser274Asn)
?/? c.846C>T r.(=) p.(=)
?/? c.870+8C>T r.(=) p.(=)
?/? c.870+28C>G r.(=) p.(=)
?/? c.871-20C>T r.(=) p.(=)
?/? c.871-15_871-13del r.(=) p.(=)
?/? c.871-7T>C r.(=) p.(=)
?/? c.942A>G r.(=) p.(=)
?/? c.981C>T r.(=) p.(=)
?/? c.1030G>A r.(?) p.(Gly344Arg)
?/? c.1045G>A r.(?) p.(Val349Met)
?/? c.1046T>C r.(?) p.(Val349Ala)
?/? c.1056C>T r.(=) p.(=)
?/? c.1168C>G r.(?) p.(Pro390Ala)
?/? c.1173G>A r.(=) p.(=)
?/? c.1215T>A r.(=) p.(=)
?/? c.1233C>T r.(=) p.(=)
?/? c.*1G>A r.(=) p.(=)
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