Transcript #00011127 (NM_002312.3, LIG4 gene)

Transcript name transcript variant 1
Gene name LIG4 (ligase IV, DNA, ATP-dependent)
Chromosome 13
Transcript - NCBI ID NM_002312.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002303.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

71 entries on 1 page. Showing entries 1 - 71.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.8C>T r.(?) p.(Ala3Val)
-?/. - c.8C>T r.(?) p.(Ala3Val)
-/. - c.26C>T r.(?) p.(Thr9Ile)
-?/. - c.26C>T r.(?) p.(Thr9Ile)
?/. - c.144_150del r.(?) p.(Phe49Metfs*18)
?/. - c.152_153del r.(?) p.(Asp51Glyfs*4)
-?/. - c.180C>T r.(?) p.(Val60=)
-?/. - c.285G>A r.(?) p.(Glu95=)
-?/. - c.381G>C r.(?) p.(Met127Ile)
+/? 2 c.613del r.(?) p.(Ser205Leufs*29)
+/? 2 c.613del r.(?) p.(Ser205Leufs*29)
+/. - c.613del r.(?) p.(Ser205LeufsTer29)
-?/. - c.702A>T r.(?) p.(Gly234=)
-?/. - c.712A>G r.(?) p.(Ile238Val)
?/. - c.787A>G r.(?) p.(Met263Val)
+/. - c.833G>A r.(?) p.(Arg278His)
?/. - c.854G>T r.(?) p.(Gly285Val)
-?/. - c.898G>A r.(?) p.(Asp300Asn)
-/. - c.915T>C r.(?) p.(Ser305=)
-?/. - c.1193G>A r.(?) p.(Gly398Asp)
+/? 2 c.1246_1250dup r.(?) p.(Leu418Metfs*3)
?/. - c.1271_1275del r.(?) p.(Lys424Argfs*20)
+/? 2 c.1271_1275del r.(?) p.(Lys424Argfs*20)
+/? 2 c.1271_1275del r.(?) p.(Lys424Argfs*20)
+/? 2 c.1271_1275del r.(?) p.(Lys424Argfs*20)
+/? 2 c.1271_1275del r.(?) p.(Lys424Argfs*20)
+/? 2 c.1271_1275del r.(?) p.(Lys424Argfs*20)
?/. - c.1271_1275del r.(?) p.(Lys424ArgfsTer20)
+/. - c.1271_1275del r.(?) p.(Lys424ArgfsTer20)
+/. - c.1271_1275del r.(?) p.(Lys424ArgfsTer20)
+/. - c.1298_1300del r.(?) p.(Gln433del)
-?/. - c.1372C>T r.(?) p.(Leu458=)
?/. - c.1426C>T r.(?) p.(Arg476Trp)
+/? 2 c.1512_1513del r.(?) p.(Arg505Cysfs*12)
+/. - c.1512_1513del r.(?) p.(Arg505CysfsTer12)
?/. - c.1538A>G r.(?) p.(Lys513Arg)
-?/. - c.1607G>A r.(?) p.(Ser536Asn)
-/. - c.1704T>C r.(?) p.(Asp568=)
?/. - c.1730G>A r.(?) p.(Arg577His)
-?/. - c.1798G>A r.(?) p.(Glu600Lys)
-?/. - c.1831G>A r.(?) p.(Ala611Thr)
+/? 2 c.1904del r.(?) p.(Lys635Argfs*10)
+/? 2 c.1904del r.(?) p.(Lys635Argfs*10)
-?/. - c.1954G>A r.(?) p.(Val652Ile)
-?/. - c.1954G>A r.(?) p.(Val652Ile)
?/. - c.1955T>G r.(?) p.(Val652Gly)
-?/. - c.1983T>C r.(?) p.(Asp661=)
?/. - c.2016C>G r.(?) p.(Ser672Arg)
-?/. - c.2016C>G r.(?) p.(Ser672Arg)
+/? 2 c.2094C>G r.(?) p.(Tyr698*)
-?/. - c.2266C>A r.(?) p.(Arg756Ser)
-?/. - c.2266C>T r.(?) p.(Arg756Cys)
?/. - c.2269G>A r.(?) p.(Glu757Lys)
-?/. - c.2281T>C r.(?) p.(Tyr761His)
+/. - c.2321T>C r.(?) p.(Leu774Pro)
+/? 2 c.2386_2389dup r.(?) p.(Ala797Aspfs*3)
+/? 2 c.2440C>T r.(?) p.(Arg814*)
+/? 2 c.2440C>T r.(?) p.(Arg814*)
+/? 2 c.2440C>T r.(?) p.(Arg814*)
+/? 2 c.2440C>T r.(?) p.(Arg814*)
+/? 2 c.2440C>T r.(?) p.(Arg814*)
+/? 2 c.2440C>T r.(?) p.(Arg814*)
+/? 2 c.2440C>T r.(?) p.(Arg814*)
+/? 2 c.2440C>T r.(?) p.(Arg814*)
+/? 2 c.2440C>T r.(?) p.(Arg814*)
+/. 2 c.2440C>T r.(?) p.(Arg814*)
?/. - c.2525C>A r.(?) p.(Ala842Asp)
-?/. - c.2525C>A r.(?) p.(Ala842Asp)
?/. - c.2525C>A r.(?) p.(Ala842Asp)
-?/. - c.2525C>A r.(?) p.(Ala842Asp)
-/. - c.2569G>A r.(?) p.(Ala857Thr)
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