Transcript #00005314

Transcript name ENTH domain containing 1
Gene name ENTHD1 (ENTH domain containing 1)
Chromosome 22
Transcript - NCBI ID NM_152512.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_689725.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

77 entries on 1 page. Showing entries 1 - 77.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-12C>T r.(=) p.(=)
?/? c.6G>C r.(=) p.(=)
?/? c.19G>A r.(?) p.(Val7Met)
?/? c.79A>C r.(?) p.(Asn27His)
?/? c.81C>T r.(=) p.(=)
?/? c.82G>A r.(?) p.(Asp28Asn)
?/? c.92G>A r.(?) p.(Gly31Asp)
?/? c.96C>T r.(=) p.(=)
?/? c.116A>G r.(?) p.(Asp39Gly)
?/? c.192T>C r.(=) p.(=)
?/? c.297C>A r.(?) p.(Asn99Lys)
?/? c.326T>C r.(?) p.(Ile109Thr)
?/? c.349+47C>T r.(=) p.(=)
?/? c.357T>C r.(=) p.(=)
?/? c.378A>G r.(=) p.(=)
?/? c.422G>T r.(?) p.(Arg141Met)
?/? c.437G>A r.(?) p.(Arg146Gln)
?/? c.466T>C r.(=) p.(=)
?/? c.467T>G r.(?) p.(Leu156Trp)
?/? c.475A>G r.(?) p.(Lys159Glu)
?/? c.511T>C r.(?) p.(Cys171Arg)
?/? c.528A>C r.(=) p.(=)
?/? c.530C>T r.(?) p.(Pro177Leu)
?/? c.533A>T r.(?) p.(Asp178Val)
?/? c.558T>C r.(=) p.(=)
?/? c.579G>C r.(?) p.(Arg193Ser)
?/? c.591A>T r.(?) p.(Lys197Asn)
?/? c.592+3A>G r.spl? p.?
?/? c.592+17T>C r.(=) p.(=)
?/? c.592+42T>C r.(=) p.(=)
?/? c.593-23C>G r.(=) p.(=)
?/? c.615G>A r.(=) p.(=)
?/? c.640C>T r.(?) p.(His214Tyr)
?/? c.696T>C r.(=) p.(=)
?/? c.711+6T>C r.(=) p.(=)
?/? c.711+40T>C r.(=) p.(=)
?/? c.711+42C>T r.(=) p.(=)
?/? c.716T>C r.(?) p.(Leu239Pro)
?/? c.752T>C r.(?) p.(Leu251Ser)
?/? c.807A>C r.(?) p.(Glu269Asp)
?/? c.809_811del r.(?) p.(Glu270del)
?/? c.832+8G>T r.(=) p.(=)
?/? c.832+20G>A r.(=) p.(=)
?/? c.833-10T>G r.(=) p.(=)
?/? c.849C>A r.(=) p.(=)
?/? c.875G>C r.(?) p.(Arg292Thr)
?/? c.889G>T r.(?) p.(Asp297Tyr)
?/? c.957G>A r.(=) p.(=)
?/? c.1008G>C r.(?) p.(Trp336Cys)
?/? c.1036G>A r.(?) p.(Asp346Asn)
?/? c.1042A>G r.(?) p.(Arg348Gly)
?/? c.1054T>G r.(?) p.(Ser352Ala)
?/? c.1104_1105del r.(?) p.(Pro369Leufs*6)
?/? c.1126C>T r.(?) p.(Arg376*)
?/? c.1142T>C r.(?) p.(Val381Ala)
?/? c.1165C>G r.(?) p.(Pro389Ala)
?/? c.1220-11A>G r.(=) p.(=)
?/? c.1259T>C r.(?) p.(Leu420Ser)
?/? c.1327G>A r.(?) p.(Gly443Arg)
?/? c.1342A>G r.(?) p.(Thr448Ala)
?/? c.1345C>T r.(=) p.(=)
?/? c.1371C>A r.(=) p.(=)
?/? c.1385A>C r.(?) p.(Glu462Ala)
?/? c.1466A>G r.(?) p.(Asn489Ser)
?/? c.1471C>T r.(=) p.(=)
?/? c.1481T>C r.(?) p.(Leu494Pro)
?/? c.1527T>C r.(=) p.(=)
?/? c.1603A>G r.(?) p.(Thr535Ala)
?/? c.1643T>C r.(?) p.(Ile548Thr)
?/? c.1673C>T r.(?) p.(Ala558Val)
?/? c.1674G>A r.(=) p.(=)
?/? c.1683A>G r.(=) p.(=)
?/? c.1697T>C r.(?) p.(Leu566Pro)
?/? c.1723G>A r.(?) p.(Val575Ile)
?/? c.1739T>C r.(?) p.(Leu580Ser)
?/? c.*7C>G r.(=) p.(=)
?/? c.*31G>A r.(=) p.(=)
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