Transcript #00007950 (NM_001039492.2, FHL2 gene)

Transcript name transcript variant 5
Gene name FHL2 (four and a half LIM domains 2)
Chromosome 2
Transcript - NCBI ID NM_001039492.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001034581.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

42 entries on 1 page. Showing entries 1 - 42.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-600G>T r.(?) p.(=)
-?/. - c.-131A>G r.(?) p.(=)
-?/. - c.-109C>A r.(?) p.(=)
-/. - c.-68G>A r.(?) p.(=)
-/. - c.33C>T r.(?) p.(Asn11=)
-/. - c.85G>A r.(?) p.(Val29Met)
-/. - c.87G>C r.(?) p.(Val29=)
-/. - c.109G>T r.(?) p.(Ala37Ser)
-/. - c.120C>T r.(?) p.(Cys40=)
+?/. 2 c.142G>A r.(?) p.(Gly48Ser)
-/. - c.156+8C>T r.(=) p.(=)
-?/. - c.156+21C>T r.(=) p.(=)
-?/. - c.156+38C>T r.(=) p.(=)
-/. - c.174C>T r.(?) p.(Asp58=)
-/. - c.192C>T r.(?) p.(Ala64=)
-?/? 4 c.319_320dup r.(?) p.(Ile108Profs*104)
-/. - c.321C>T r.(?) p.(Thr107=)
-/. - c.331+16T>C r.(=) p.(=)
-/. - c.331+20T>A r.(=) p.(=)
?/. - c.337C>T r.(?) p.(Arg113Cys)
?/. 5 c.337C>T r.(?) p.(Arg113Cys)
?/. - c.338G>A r.(?) p.(Arg113His)
?/. - c.374C>A r.(?) p.(Thr125Asn)
?/. - c.391C>T r.(?) p.(Arg131Cys)
?/. - c.392G>A r.(?) p.(Arg131His)
?/. - c.462T>G r.(?) p.(Tyr154Ter)
?/. - c.469C>A r.(?) p.(Gln157Lys)
?/. - c.487_488del r.(?) p.(Val163SerfsTer42)
-/. - c.530G>A r.(?) p.(Arg177Gln)
?/. - c.559G>T r.(?) p.(Val187Leu)
?/. - c.576G>T r.(?) p.(Arg192Ser)
-/. - c.678C>T r.(?) p.(Asn226=)
-/. - c.688+12G>T r.(=) p.(=)
-/. - c.688+12G>T r.(=) p.(=)
-/. - c.689-12C>G r.(=) p.(=)
-/. - c.689-10C>G r.(=) p.(=)
?/. - c.698G>A r.(?) p.(Gly233Asp)
-/. - c.699C>A r.(?) p.(Gly233=)
-/. - c.804C>T r.(?) p.(Asp268=)
-/. - c.804C>T r.(?) p.(Asp268=)
?/. - c.815G>A r.(?) p.(Cys272Tyr)
-/. - c.819C>T r.(?) p.(Pro273=)
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