Transcript #00000235 (NM_000141.4, FGFR2 gene)

Transcript name transcript variant 1
Gene name FGFR2 (fibroblast growth factor receptor 2)
Chromosome 10
Transcript - NCBI ID NM_000141.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000132.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

223 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-12023610_*88560dup - -
-?/. - c.-74G>A r.(?) p.(=)
-/. - c.17G>C r.(?) p.(Arg6Pro)
-?/. - c.23T>G r.(?) p.(Ile8Ser)
-?/. - c.43A>G r.(?) p.(Met15Val)
?/. - c.101A>T r.(?) p.(Glu34Val)
?/. - c.101A>T r.(?) p.(Glu34Val)
-/. - c.109+10T>G r.(=) p.(=)
-?/. - c.109+10T>G r.(=) p.(=)
-/. - c.110-26G>A r.(=) p.(=)
-/. - c.110-16_110-15del r.(=) p.(=)
-?/. - c.144A>C r.(?) p.(Glu48Asp)
-?/. - c.159G>A r.(?) p.(Ala53=)
-/. - c.170C>T r.(?) p.(Ser57Leu)
-?/. - c.170C>T r.(?) p.(Ser57Leu)
-/. - c.170C>T r.(?) p.(Ser57Leu)
?/. - c.181C>T r.(?) p.(Arg61Cys)
?/. - c.199G>A r.(?) p.(Ala67Thr)
-?/. - c.294G>A r.(?) p.(Thr98=)
-/. - c.294G>A r.(?) p.(Thr98=)
-/. - c.294G>A r.(?) p.(Thr98=)
-?/. - c.310C>T r.(?) p.(Leu104Phe)
+/. - c.314A>G r.(?) p.(Tyr105Cys)
+/. - c.314A>G r.(?) p.(Tyr105Cys)
+/. - c.334T>C r.(?) p.(Tyr112His)
-/. - c.377-29A>G r.(=) p.(=)
-?/. - c.454+3A>G r.spl? p.?
-/. - c.454+14C>T r.(=) p.(=)
-?/. - c.455-6A>T r.(=) p.(=)
-?/. - c.540A>C r.(?) p.(Pro180=)
-?/. - c.557T>C r.(?) p.(Met186Thr)
-/. - c.557T>C r.(?) p.(Met186Thr)
-/. - c.557T>C r.(?) p.(Met186Thr)
?/. - c.621C>G r.(?) p.(Tyr207Ter)
+?/. 6 c.629G>A r.(?) p.(Arg210Gln)
-/. - c.696A>G r.(?) p.(Val232=)
-/. - c.696A>G r.(?) p.(Val232=)
-/. - c.749-112G>A r.(=) p.(=)
-/. - c.749-27T>C r.(=) p.(=)
+/. - c.755C>G r.(?) p.(Ser252Trp)
+/. 7 c.755C>G r.(?) p.(Ser252Trp)
+/. - c.755C>G r.(?) p.(Ser252Trp)
+/. - c.755C>G r.(?) p.(Ser252Trp)
+/. 7 c.755C>G r.(?) p.(Ser252Trp)
+/. - c.755C>G r.(?) p.Ser252Trp
+/. - c.755C>G r.(?) p.(Ser252Trp)
+/. - c.755C>T r.(?) p.(Ser252Leu)
-?/. - c.756G>A r.(?) p.(Ser252=)
+/. - c.758C>G r.(?) p.(Pro253Arg)
+/. 7 c.758C>G r.(?) p.(Pro253Arg)
+/. - c.758C>G r.(?) p.(Pro253Arg)
+/. - c.758C>G r.(?) p.(Pro253Arg)
+/. - c.758C>G r.(?) p.(Pro253Arg)
+/. - c.758C>G r.(?) p.(Pro253Arg)
?/. - c.758C>T r.(?) p.(Pro253Leu)
-/. - c.759T>G r.(?) p.(Pro253=)
+/. - c.799T>C r.(?) p.(Ser267Pro)
-?/. - c.803C>T r.(?) p.(Thr268Ile)
+/. - c.812G>T r.(?) p.(Gly271Val)
+?/. 7 c.826T>G r.(?) p.(Phe276Val)
+?/. 7 c.826T>G r.(?) p.(Phe276Val)
+/. - c.826T>G r.(?) p.(Phe276Val)
+/. - c.826T>G r.(?) p.(Phe276Val)
+?/. 7 c.833G>T r.(?) p.(Cys278Phe)
+?/. - c.833G>T r.(?) p.(Cys278Phe)
+?/. - c.833G>T r.(?) p.(Cys278Phe)
+?/. - c.833G>T r.(?) p.(Cys278Phe)
+/. - c.833G>T r.(?) p.(Cys278Phe)
+?/. 7 c.865_873del r.(?) p.(Gln289_Ile291del)
+/. - c.866A>C r.(?) p.(Gln289Pro)
+/. - c.868T>C r.(?) p.(Trp290Arg)
+/. - c.868T>C r.(?) p.(Trp290Arg)
+?/. 7 c.868T>G r.(?) p.(Trp290Gly)
+/. - c.868T>G r.(?) p.(Trp290Gly)
+?/. 7 c.870G>C r.(?) p.(Trp290Cys)
+/. - c.870G>C r.(?) p.(Trp290Cys)
+/. - c.870G>C r.(?) p.(Trp290Cys)
+/. - c.870G>T r.(?) p.(Trp290Cys)
+?/. 7 c.874A>G r.(?) p.(Lys292Glu)
-/. - c.883G>C r.(?) p.(Glu295Gln)
?/. - c.892G>A r.(?) p.(Gly298Ser)
?/. - c.911A>G r.(?) p.(Asp304Gly)
-?/. - c.939+1154C>T r.(=) p.(=)
-?/. - c.939+1203C>T r.(=) p.(=)
-?/. - c.939+1245T>C r.(=) p.(=)
-?/. - c.940-4C>G r.spl? p.?
+/. 7i c.940-2A>G r.spl? p.?
+/. - c.940-2A>G r.spl? p.?
+/. 7i c.940-1G>A r.spl? p.?
-?/. - c.942C>T r.(?) p.(Ala314=)
+/. - c.943G>T r.(?) p.(Ala315Ser)
+/. - c.943G>T r.(?) p.(Ala315Ser)
+?/? 8 c.979C>G r.(?) p.(Leu327Val)
-?/. - c.1002T>C r.(?) p.(Phe334=)
+?/. 8 c.1007A>G r.(?) p.(Asp336Gly)
+?/. 8 c.1009G>C r.(?) p.(Ala337Pro)
+/. - c.1012G>C r.(?) p.(Gly338Arg)
+/. - c.1018T>A r.(?) p.(Tyr340Asn)
+/. - c.1018T>C r.(?) p.(Tyr340His)
+/. - c.1018T>C r.(?) p.(Tyr340His)
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