Transcript #00015706 (NM_006193.2, PAX4 gene)

Transcript name paired box 4
Gene name PAX4 (paired box 4)
Chromosome 7
Transcript - NCBI ID NM_006193.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_006184.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

14 entries on 1 page. Showing entries 1 - 14.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-8318385_*6251054del r.0? p.0?
-?/. - c.92G>A r.(?) p.(Arg31Gln)
+?/. - c.92G>A r.(?) p.(Arg31Gln)
+?/. - c.244C>T r.(?) p.(Gln82*)
+?/. 3 c.374_412del r.337_412del p.Val113Leufs*69
-?/. - c.574C>A r.(?) p.(Arg192Ser)
-?/. - c.575G>A r.(?) p.(Arg192His)
?/. - c.682C>G r.(?) p.(Gln228Glu)
-/. - c.748-3dup r.spl? p.?
+?/. 7i c.748-1G>A r.748_750del p.Gln250del
+?/. - c.748-1G>A r.spl? p.?
-/. - c.962A>C r.(?) p.(His321Pro)
?/. - c.989C>T r.(?) p.(Ala330Val)
-/. - c.*211A>G r.(=) p.(=)
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