Transcript #00008247 (NM_000151.3, G6PC gene)

Transcript name transcript variant 1
Gene name G6PC (glucose-6-phosphatase, catalytic subunit)
Chromosome 17
Transcript - NCBI ID NM_000151.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000142.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

53 entries on 1 page. Showing entries 1 - 53.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_1i c.(?_-80)_(230+19_231-1)del r.0? p.0?
-?/. - c.-77G>A r.(?) p.(=)
+/. 2i_5_ c.(340+1_341-1)_*3007{0} r.? p.?
+/. - c.79del r.(?) p.(Gln27ArgfsTer9)
+?/. - c.79del r.(?) p.(Gln27ArgfsTer9)
./. - c.96_97del r.(?) p.(Leu32Phefs*28)
+/. - c.113A>T r.(?) p.(Asp38Val)
-?/. - c.132C>T r.(?) p.(Tyr44=)
-?/. - c.136C>T r.(?) p.(Leu46Phe)
./. - c.181C>T r.(?) p.(Leu61Phe)
+/. - c.189G>A r.(?) p.(Trp63*)
+/. - c.209G>A r.(?) p.(Trp70Ter)
-?/. - c.231-4A>G r.spl? p.?
+/. - c.247C>T r.(?) p.(Arg83Cys)
+/? 2 c.247C>T r.(?) p.(Arg83Cys)
?/? 2 c.247C>T r.(?) p.(Arg83Cys)
+/? 2 c.247C>T r.(?) p.(Arg83Cys)
+/. - c.247C>T r.(?) p.(Arg83Cys)
+?/. - c.247C>T r.(?) p.(Arg83Cys)
?/. - c.247C>T r.(?) p.(Arg83Cys)
-/. - c.340+10C>A r.(=) p.(=)
-?/. - c.340+10C>A r.(=) p.(=)
+/. - c.379_380dup r.(?) p.(Tyr128Thrfs*3)
?/? 3 c.379_380dup r.(?) p.(Tyr128Thrfs*3)
+/? 3 c.379_380dup r.(?) p.(Tyr128Thrfs*3)
+/? 3 c.379_380dup r.(?) p.(Tyr128Thrfs*3)
+/. - c.379_380dup r.(?) p.(Tyr128Thrfs*3)
-/. - c.432G>A r.(?) p.(Pro144=)
+/. - c.508C>T r.(?) p.(Arg170Ter)
+/. - c.508C>T r.(?) p.(Arg170Ter)
+/. - c.533C>T r.(?) p.(Pro178Leu)
+/. - c.562G>C r.(?) p.(Gly188Arg)
+/. - c.562G>C r.(?) p.(Gly188Arg)
?/. - c.595C>T r.(?) p.(His199Tyr)
+?/. - c.788del r.(?) p.(Lys263ArgfsTer38)
?/? 5 c.883C>T r.(?) p.(Arg295Cys)
+/? 5 c.883C>T r.(?) p.(Arg295Cys)
+?/. - c.884G>A r.(?) p.(Arg295His)
-?/. - c.909C>T r.(?) p.(Leu303=)
-?/. - c.910G>A r.(?) p.(Val304Ile)
-?/. - c.910G>A r.(?) p.(Val304Ile)
-?/. - c.948C>A r.(?) p.(Ser316=)
-?/. - c.954C>T r.(?) p.(Val318=)
+/. - c.980_982del r.(?) p.(Phe327del)
-?/. - c.1002C>T r.(?) p.(Pro334=)
+?/. - c.1012G>T r.(?) p.(Val338Phe)
+/. - c.1022T>A r.(?) p.(Ile341Asn)
+/? 5 c.1039C>T r.(?) p.(Gln347*)
?/? 5 c.1039C>T r.(?) p.(Gln347*)
+/. - c.1039C>T r.(?) p.(Gln347*)
-?/. - c.1047G>T r.(?) p.(Leu349=)
-?/. - c.1068G>A r.(?) p.(Ser356=)
?/. - c.*745G>T r.(=) p.(=)
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