Transcript #00002763 (NM_000045.3, ARG1 gene)

Transcript name transcript variant 2
Gene name ARG1 (arginase, liver)
Chromosome 6
Transcript - NCBI ID NM_000045.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000036.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

204 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. _1 - r.(?) p.(=)
+/. _1_1i c.-79_(57+1_58-1){0} r.0? p.0?
+/. _1_1i c.-79_(57+1_58-1){0} r.0? p.0?
+/. 2i_8_ c.58-399_*424{0} r.0? p.0?
+/. - c.2T>C r.? p.(Met1?)
+/. - c.23T>A r.(?) p.(Ile8Lys)
+/. - c.23T>A r.(?) p.(Ile8Lys)
+/. - c.32T>C r.(?) p.(Ile11Thr)
+/. - c.32T>C r.(?) p.(Ile11Thr)
+?/. 1 c.32T>C r.(?) p.(ile11Thr)
+?/. 1 c.32T>C r.(?) p.(ile11Thr)
+?/. 1 c.32T>C r.(?) p.(ile11Thr)
+/. - c.32T>C r.(?) p.(Ile11Thr)
+/. - c.32T>C r.(?) p.(Ile11Thr)
+/. - c.34G>T r.(?) p.(Gly12*)
+/. - c.34G>T r.(?) p.(Gly12*)
+/. - c.53G>A r.(?) p.(Gly18Glu)
+/. 1i c.57+1G>A r.spl? p.?
+/. 1i c.57+1G>A r.spl p.?
+/. - c.58-3C>G r.spl? p.?
+/. - c.58-3C>G r.spl? p.?
+/. - c.61C>T r.(?) p.(Arg21*)
+/. - c.61C>T r.(?) p.(Arg21*)
+/. - c.61C>T r.(?) p.(Arg21*)
+/. - c.61C>T r.(?) p.(Arg21*)
+/. - c.61C>T r.(?) p.(Arg21*)
+/. - c.61C>T r.(?) p.(Arg21*)
+/. - c.61C>T r.(?) p.(Arg21*)
+/. - c.61C>T r.(?) p.(Arg21*)
+/. - c.61C>T r.(?) p.(Arg21*)
+/. - c.61C>T r.(?) p.(Arg21*)
+/. - c.61C>T r.(?) p.(Arg21*)
+/. 2 c.61C>T r.(spl?) p.(Arg21*)
+/. 2 c.61C>T r.(spl?) p.(Arg21*)
+/. 2 c.61C>T r.(spl?) p.(Arg21*)
+/. 2 c.61C>T r.(spl?) p.(Arg21*)
+/. - c.61C>T r.(?) p.(Arg21*)
+/. - c.61C>T r.(?) p.(Arg21*)
-/. 2 c.62G>A r.(?) p.(Arg21Gln )
+/. - c.70del r.(?) p.(Val24Trpfs*8)
+/. 2 c.78del r.(?) p.(Gly27AlafsTer5)
+/. - c.78del r.(?) p.(Gly27Alafs*5)
+/. - c.80G>A r.(?) p.(Gly27Asp)
+/. - c.93del r.(?) p.(Arg32Glufs*16)
+/. - c.121_122insCTT r.(?) p.(Lys41_Lys322delinsThr)
+/. - c.124G>T r.(?) p.(Glu42*)
+/. - c.130+1G>A r.spl p.?
+/. - c.130+1G>A r.spl p.?
+/. - c.132_146del r.(?) p.(Glu44_Lys48del)
+/. - c.132_146del r.(?) p.(Glu44_Lys48del)
+/. - c.206A>T r.(?) p.(Asn69Ile)
+/. - c.206A>T r.(?) p.(Asn69Ile)
+/. - c.212G>C r.(?) p.(Arg71Thr)
+/. - c.221G>T r.(?) p.(Gly74Val)
+/. - c.223A>T - p.Lys75*
+/. - c.223A>T r.(?) p.(Lys75*)
+/. - c.231C>A r.(?) p.(Ser77Arg)
-?/. - c.231C>T r.(?) p.(Ser77=)
+/. - c.232dup r.(?) p.(Glu78Glyfs*40)
+/. 3 c.263_266del r.(?) p.(Lys88Argfs*45)
+/. - c.263_266del r.(?) p.(Lys88Argfs*45)
+/. - c.263_266del r.(?) p.(Lys88Argfs*45)
-/. - c.270C>T r.(?) p.(Asn90=)
-/. - c.270C>T r.(?) p.(Asn90=)
-/. 3 c.270C>T r.(?) p.(=)
-/. 3 c.270C>T r.(?) p.(=)
+/. - c.282C>G r.(?) p.(Ser94Arg)
+/. - c.292G>A r.(?) p.(Gly98Ser)
+/. - c.295G>A r.(?) p.(Gly99Arg)
+/. - c.295G>A r.(?) p.(Gly99Arg)
+/. - c.295G>A r.(?) p.(Gly99Arg)
+/. - c.295G>A r.(?) p.(Gly99Arg)
+/. - c.298G>A r.(?) p.(Asp100Asn)
+/. - c.298G>A r.(?) p.(Asp100Asn)
+/. - c.301_302delinsGG - p.His101Gly
+/. 3i c.306-611T>C r.305_306ins306-620_306-496del p.Leu103fs
+/. 3i c.306-611T>C r.305_306ins306-620_306-496del p.Leu103fs
+/. - c.316G>C r.(?) p.(Gly106Arg)
-?/. - c.336C>A r.(?) p.(Ala112=)
+/. - c.365G>A r.(?) p.(Trp122*)
+/. - c.365G>A r.(?) p.(Trp122*)
+/. - c.365G>A r.(?) p.(Trp122*)
+/. 4 c.365G>A r.(?) p.(Trp122*)
+/. - c.365G>A r.(?) p.(Trp122*)
+/. - c.365G>A - p.Trp122*
+/. - c.374C>T r.(?) p.(Ala125Val)
+/. - c.383A>G r.(?) p.(Asp128Gly)
+/. - c.383A>G r.(?) p.(Asp128Gly)
+/. - c.383A>G r.(?) p.(Asp128Gly)
+/. - c.383A>G r.(?) p.(Asp128Gly)
+/. - c.383A>G r.(?) p.(Asp128Gly)
+/. - c.383A>G r.(?) p.(Asp128Gly)
+/. - c.383A>G - p.Asp128Gly
+/. - c.386_388del r.(?) p.(Ile129del)
+/. - c.386_388del - p.Ile129del
+/. - c.404C>T r.(?) p.(Thr135Ile)
+/. - c.404C>T r.(?) p.(Thr135Ile)
+/. - c.404C>T r.(?) p.(Thr135Ile)
+/. - c.404C>T r.(?) p.(Thr135Ile)
+/. - c.404C>T r.(?) p.(Thr135Ile)
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