Transcript #00007425

Transcript name HEAT repeat containing 3
Gene name HEATR3 (HEAT repeat containing 3)
Chromosome 16
Transcript - NCBI ID NM_182922.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_891552.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

106 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-3A>G r.(=) p.(=)
?/? c.11G>A r.(?) p.(Ser4Asn)
?/? c.14G>A r.(?) p.(Arg5Gln)
?/? c.119C>G r.(?) p.(Ala40Gly)
?/? c.125A>C r.(?) p.(Glu42Ala)
?/? c.138+13C>T r.(=) p.(=)
?/? c.138+34G>C r.(=) p.(=)
?/? c.139-37_139-33del r.(=) p.(=)
?/? c.139-34C>T r.(=) p.(=)
?/? c.139-25T>A r.(=) p.(=)
?/? c.139-4G>C r.spl? p.?
?/? c.190C>G r.(?) p.(Arg64Gly)
?/? c.399+7A>T r.(=) p.(=)
?/? c.400-18C>G r.(=) p.(=)
?/? c.466A>G r.(?) p.(Ile156Val)
?/? c.477A>G r.(?) p.(Ile159Met)
?/? c.512+15A>G r.(=) p.(=)
?/? c.512+33T>C r.(=) p.(=)
?/? c.512+45G>A r.(=) p.(=)
?/? c.591T>C r.(=) p.(=)
?/? c.599A>G r.(?) p.(Asn200Ser)
?/? c.613A>G r.(?) p.(Ile205Val)
?/? c.622+19A>G r.(=) p.(=)
?/? c.622+39A>G r.(=) p.(=)
?/? c.623-4G>A r.spl? p.?
?/? c.639A>G r.(=) p.(=)
?/? c.648G>A r.(=) p.(=)
?/? c.655C>A r.(?) p.(Pro219Thr)
?/? c.656C>T r.(?) p.(Pro219Leu)
?/? c.739C>T r.(?) p.(Leu247Phe)
?/? c.750G>A r.(=) p.(=)
?/? c.752C>T r.(?) p.(Thr251Ile)
?/? c.763+11G>C r.(=) p.(=)
?/? c.763+18G>A r.(=) p.(=)
?/? c.857T>C r.(?) p.(Met286Thr)
?/? c.873G>C r.(?) p.(Met291Ile)
?/? c.906G>T r.(?) p.(Arg302Ser)
?/? c.914C>T r.(?) p.(Thr305Ile)
?/? c.958G>T r.(?) p.(Asp320Tyr)
?/? c.1010G>A r.(?) p.(Arg337Lys)
?/? c.1012A>G r.(?) p.(Arg338Gly)
?/? c.1024G>A r.(?) p.(Val342Ile)
?/? c.1041G>A r.(=) p.(=)
?/? c.1041+36A>G r.(=) p.(=)
?/? c.1042-51A>G r.(=) p.(=)
?/? c.1109T>C r.(?) p.(Ile370Thr)
?/? c.1110T>C r.(=) p.(=)
?/? c.1127A>G r.(?) p.(Asn376Ser)
?/? c.1132+31C>T r.(=) p.(=)
?/? c.1132+33C>G r.(=) p.(=)
?/? c.1133-52C>T r.(=) p.(=)
?/? c.1133-42_1133-40del r.(=) p.(=)
?/? c.1133-30C>A r.(=) p.(=)
?/? c.1133-20G>A r.(=) p.(=)
?/? c.1133-10C>T r.(=) p.(=)
?/? c.1142A>T r.(?) p.(Asp381Val)
?/? c.1151G>C r.(?) p.(Trp384Ser)
?/? c.1185A>G r.(=) p.(=)
?/? c.1213G>A r.(?) p.(Gly405Arg)
?/? c.1221G>A r.(=) p.(=)
?/? c.1238G>C r.(?) p.(Cys413Ser)
?/? c.1246C>T r.(?) p.(His416Tyr)
?/? c.1267A>G r.(?) p.(Thr423Ala)
?/? c.1290+43G>A r.(=) p.(=)
?/? c.1291-50G>A r.(=) p.(=)
?/? c.1291-6A>T r.(=) p.(=)
?/? c.1306G>C r.(?) p.(Ala436Pro)
?/? c.1362T>G r.(=) p.(=)
?/? c.1373+6A>G r.(=) p.(=)
?/? c.1373+13C>G r.(=) p.(=)
?/? c.1374-4C>T r.spl? p.?
?/? c.1397C>T r.(?) p.(Ala466Val)
?/? c.1432G>T r.(?) p.(Asp478Tyr)
?/? c.1466A>T r.(?) p.(Gln489Leu)
?/? c.1469C>T r.(?) p.(Thr490Met)
?/? c.1489C>T r.(?) p.(Gln497*)
?/? c.1510+16T>C r.(=) p.(=)
?/? c.1510+18C>T r.(=) p.(=)
?/? c.1510+27A>G r.(=) p.(=)
?/? c.1510+28C>T r.(=) p.(=)
?/? c.1511-44A>G r.(=) p.(=)
?/? c.1511-28A>G r.(=) p.(=)
?/? c.1543A>G r.(?) p.(Ile515Val)
?/? c.1583C>G r.(?) p.(Ser528Cys)
?/? c.1590C>T r.(=) p.(=)
?/? c.1600-48A>C r.(=) p.(=)
?/? c.1600-45A>G r.(=) p.(=)
?/? c.1600-32A>G r.(=) p.(=)
?/? c.1600-17_1600-13del r.(=) p.(=)
?/? c.1652G>C r.(?) p.(Ser551Thr)
?/? c.1683C>T r.(=) p.(=)
?/? c.1705G>A r.(?) p.(Val569Ile)
?/? c.1744-27A>G r.(=) p.(=)
?/? c.1783C>T r.(?) p.(Pro595Ser)
?/? c.1852G>A r.(?) p.(Glu618Lys)
?/? c.1894G>C r.(?) p.(Glu632Gln)
?/? c.1905G>A r.(=) p.(=)
?/? c.1920+41T>C r.(=) p.(=)
?/? c.1921-20T>G r.(=) p.(=)
?/? c.1942A>G r.(?) p.(Asn648Asp)
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