Transcript #00001228 (NM_001522.2, GUCY2F gene)

Transcript name guanylate cyclase 2F, retinal
Gene name GUCY2F (guanylate cyclase 2F, retinal)
Chromosome X
Transcript - NCBI ID NM_001522.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001513.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

52 entries on 1 page. Showing entries 1 - 52.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-85-78dup r.(=) p.(=)
?/. - c.-85-77del r.(=) p.(=)
?/. - c.88G>A r.(?) p.(Ala30Thr)
?/. - c.136C>T r.(?) p.(Gln46Ter)
-?/. - c.201T>G r.(?) p.(Phe67Leu)
-?/. - c.256G>C r.(?) p.(Asp86His)
?/. - c.479T>A r.(?) p.(Ile160Asn)
-?/. - c.499C>T r.(?) p.(Arg167Trp)
-?/. - c.542A>G r.(?) p.(Lys181Arg)
?/. - c.688C>T r.(?) p.(Arg230Trp)
?/. - c.730+6T>C r.(=) p.(=)
?/. - c.841T>C r.(?) p.(Tyr281His)
?/. - c.851T>C r.(?) p.(Leu284Pro)
?/. - c.887G>A r.(?) p.(Arg296Gln)
-?/. - c.913C>T r.(?) p.(Arg305Trp)
-?/. - c.930A>G r.(?) p.(Ala310=)
-?/. - c.970T>C r.(?) p.(Tyr324His)
?/. - c.970T>C r.(?) p.(Tyr324His)
?/. - c.994del r.(?) p.(Ala332GlnfsTer32)
-?/. - c.1121G>A r.(?) p.(Gly374Asp)
?/. - c.1140G>T r.(?) p.(Gln380His)
-/. - c.1299C>T r.(?) p.(Phe433=)
-?/. - c.1300G>A r.(?) p.(Gly434Arg)
?/. - c.1322C>G r.(?) p.(Pro441Arg)
-?/. - c.1392C>T r.(?) p.(Ile464=)
-?/. - c.1507C>T r.(?) p.(Pro503Ser)
-?/. - c.1649C>T r.(?) p.(Ser550Leu)
-?/. - c.1650A>G r.(?) p.(Ser550=)
-?/. - c.1720A>C r.(?) p.(Lys574Gln)
-?/. - c.1848G>C r.(?) p.(Ser616=)
?/. - c.1883G>A r.(?) p.(Arg628Gln)
?/. - c.1932G>T r.(?) p.(Trp644Cys)
?/. - c.2029G>C r.(?) p.(Val677Leu)
-?/. - c.2050C>T r.(=) p.(=)
-?/. - c.2124A>C r.(?) p.(Glu708Asp)
-/. - c.2129T>A r.(?) p.(Leu710Gln)
?/. - c.2203A>G r.(?) p.(Ser735Gly)
?/. - c.2237G>A r.(?) p.(Arg746Gln)
-?/. - c.2380G>A r.(?) p.(Glu794Lys)
-?/. - c.2380G>A r.(?) p.(Glu794Lys)
?/. - c.2380G>A r.(?) p.(Glu794Lys)
-?/. - c.2519G>A r.(?) p.(Arg840Gln)
-?/. - c.2529T>C r.(?) p.(Thr843=)
?/. - c.2588+1G>A r.spl? p.?
?/. - c.2588+64del r.(=) p.(=)
?/. - c.2741C>T r.(?) p.(Thr914Ile)
?/. - c.2800del r.(?) p.(Ala934ProfsTer25)
-/. - c.2834A>G r.(?) p.(Asn945Ser)
-?/. - c.2917C>A r.(?) p.(Pro973Thr)
-?/. - c.2957-7T>G r.(=) p.(=)
?/. - c.3221C>A r.(?) p.(Pro1074Gln)
-?/. - c.3296C>T r.(?) p.(Ala1099Val)
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