Transcript #00001079 (NM_153448.3, ESX1 gene)

Transcript name ESX homeobox 1
Gene name ESX1 (ESX homeobox 1)
Chromosome X
Transcript - NCBI ID NM_153448.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_703149.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

31 entries on 1 page. Showing entries 1 - 31.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.55G>T r.(?) p.(Val19Phe)
-?/. - c.132G>T r.(?) p.(Glu44Asp)
-?/. - c.202C>A r.(?) p.(Pro68Thr)
-?/. 2 c.225G>A r.(?) p.(=)
-?/. - c.228T>C r.(?) p.(Gly76=)
-?/. - c.307C>G r.(?) p.(Leu103Val)
-?/. - c.327G>C r.(?) p.(Glu109Asp)
?/. 2 c.389C>T r.(?) p.(Ala130Val)
?/. - c.553-170G>A r.(=) p.(=)
?/. - c.553-170G>A r.(=) p.(=)
?/. 4 c.578A>G r.(?) p.(Lys193Arg)
-?/. - c.653T>A r.(?) p.(Phe218Tyr)
-?/. - c.674C>T r.(?) p.(Ala225Val)
?/. - c.868C>T r.(?) p.(Arg290Cys)
?/. - c.913C>A r.(?) p.(Pro305Thr)
?/. - c.959_985del r.(?) p.(Pro320_Ala328del)
?/. - c.967C>A r.(?) p.(Pro323Thr)
-?/. - c.986G>C r.(?) p.(Arg329Pro)
-?/. - c.993A>G r.(?) p.(Pro331=)
?/. - c.997G>A r.(?) p.(Gly333Arg)
?/. - c.1013G>C r.(?) p.(Arg338Pro)
?/. - c.1013_1039del r.(?) p.(Arg338_Ala346del)
-?/. - c.1013_1039dup r.(?) p.(Arg338_Ala346dup)
?/. - c.1015G>C r.(?) p.(Val339Leu)
-?/. - c.1040C>G r.(?) p.(Pro347Arg)
?/. - c.1067C>G r.(?) p.(Pro356Arg)
-?/. - c.1067C>T r.(?) p.(Pro356Leu)
?/. - c.1069C>G r.(?) p.(Leu357Val)
?/. - c.1105_1131del r.(?) p.(Gly369_Pro377del)
-?/. - c.1205C>T r.(?) p.(Ala402Val)
-?/. - c.1205C>T r.(?) p.(Ala402Val)
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