Transcript #00017242 (NM_005051.1, QARS gene)

Transcript name glutaminyl-tRNA synthetase
Gene name QARS (glutaminyl-tRNA synthetase)
Chromosome 3
Transcript - NCBI ID NM_005051.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_005042.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

47 entries on 1 page. Showing entries 1 - 47.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.25C>A r.(?) p.(Leu9Ile)
?/. - c.25C>A r.(?) p.(Leu9Ile)
-/. - c.25C>A r.(?) p.(Leu9Ile)
-?/. - c.117+17C>T r.(=) p.(=)
+/. 2 c.134G>T r.(?) p.(Gly45Val)
+/. 2 c.134G>T r.(?) p.(Gly45Val)
+/. 2 c.169T>C r.(?) p.(Tyr57His)
+/. 2 c.169T>C r.(?) p.(Tyr57His)
-?/. - c.229G>A r.(?) p.(Ala77Thr)
?/. - c.316G>A r.(?) p.(Asp106Asn)
?/. - c.422G>A r.(?) p.(Arg141His)
-?/. - c.451+18C>T r.(=) p.(=)
-?/. - c.637A>G r.(?) p.(Thr213Ala)
-?/. - c.673C>T r.(?) p.(Arg225Trp)
-?/. - c.720C>T r.(?) p.(Thr240=)
?/. - c.737C>T r.(?) p.(Thr246Ile)
+/. - c.793C>T r.(?) p.(Arg265Cys)
?/. - c.835G>A r.(?) p.(Gly279Arg)
-?/. - c.877-17T>C r.(=) p.(=)
-?/. - c.1055+10G>C r.(=) p.(=)
-?/. - c.1055+10G>C r.(=) p.(=)
?/. - c.1132C>T r.(?) p.(Arg378Cys)
?/. - c.1160T>G r.(?) p.(Phe387Cys)
?/. - c.1171C>T r.(?) p.(Arg391Cys)
+/. 14 c.1207C>T r.(?) p.(Arg403Trp)
+/. 14 c.1207C>T r.(?) p.(Arg403Trp)
+/. 15 c.1387C>T r.(?) p.(Arg463*)
+/. 15 c.1387C>T r.(?) p.Arg463*
-?/. - c.1388+7G>A r.(=) p.(=)
-?/. - c.1388+7G>A r.(=) p.(=)
?/. - c.1426G>A r.(?) p.(Val476Ile)
-?/. - c.1426G>A r.(?) p.(Val476Ile)
?/. - c.1525C>T r.(?) p.(Arg509Trp)
-?/. - c.1542A>G r.(?) p.(Pro514=)
-?/. - c.1542A>G r.(?) p.(Pro514=)
+/. 17 c.1543C>T r.(?) p.(Arg515Trp)
+/. 17 c.1543C>T r.(?) p.(Arg515Trp)
?/. - c.1559C>T r.(?) p.(Thr520Met)
?/. - c.1568G>A r.(?) p.(Arg523Gln)
-/. - c.1635A>G r.(?) p.(Gln545=)
-?/. - c.1825G>A r.(?) p.(Ala609Thr)
+?/. - c.1864-1G>A r.spl? p.?
-?/. - c.1884G>A r.(?) p.(Lys628=)
-?/. - c.2081G>A r.(?) p.(Arg694Gln)
+/. - c.2084+2_2084+3del r.spl p.?
+/. 23 c.2226G>T r.(?) p.Gln742His
+?/. 23 c.2226G>Y r.(?) p.(Gln742His)
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