Transcript #00008544 (NM_020435.3, GJC2 gene)

Transcript name gap junction protein, gamma 2, 47kDa
Gene name GJC2 (gap junction protein, gamma 2, 47kDa)
Chromosome 1
Transcript - NCBI ID NM_020435.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_065168.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

78 entries on 1 page. Showing entries 1 - 78.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-1303G>C r.(?) p.(=)
?/. - c.-144_-142del r.(?) p.(=)
-?/. - c.-19-3_-19-2insCGGGG r.spl? p.?
-/. - c.-14G>C r.(?) p.(=)
?/. - c.-1_4del r.? p.?
-?/. - c.30G>C r.(?) p.(Thr10=)
-?/. - c.84C>A r.(?) p.(Leu28=)
+/. 2 c.108C>G r.(?) p.(Ile36Met)
+/. 2 c.108C>G r.(?) p.(Ile36Met)
-/. - c.108C>T r.(?) p.(Ile36=)
?/. - c.138C>G r.(?) p.(Ile46Met)
+?/. 2 c.138C>G r.(?) p.(Ile46Met)
+/. - c.143C>T r.(?) p.(Ser48Leu)
+/. 2 c.143C>T r.(?) p.(Ser48Leu)
-?/. - c.147C>T r.(?) p.(Asp49=)
+/. 2 c.268C>T r.(?) p.(Pro90Ser)
+/. - c.310del r.(?) p.(Arg104ValfsTer106)
?/. - c.331C>T r.(?) p.(Arg111Cys)
-?/. - c.400G>A r.(?) p.(Gly134Ser)
-?/. - c.402C>G r.(?) p.(Gly134=)
-?/. - c.445G>A r.(?) p.(Gly149Ser)
?/. - c.448C>G r.(?) p.(Leu150Val)
-?/. - c.452G>T r.(?) p.(Gly151Val)
-?/. - c.462G>A r.(?) p.(Glu154=)
-/. - c.472_474del r.(?) p.(Glu158del)
+/. 2 c.508del r.(?) p.(Glu170ArgfsTer40)
-/. - c.528G>A r.(?) p.(Glu176=)
?/. - c.556G>T r.(?) p.(Gly186Cys)
-?/. - c.556G>T r.(?) p.(Gly186Cys)
-?/. - c.575C>G r.(?) p.(Pro192Arg)
-?/. - c.575C>G r.(?) p.(Pro192Arg)
-?/. - c.575C>G r.(?) p.(Pro192Arg)
-/. - c.594C>T r.(?) p.(His198=)
?/. - c.607C>T r.(?) p.(Arg203Cys)
?/. - c.623G>T r.(?) p.(Gly208Val)
-?/. - c.634G>A r.(?) p.(Val212Met)
+/. 2 c.695_696insG r.(?) p.(fs*)
+/. 2 c.695_696insG r.(?) p.(fs*)
+/. 2 c.695_696insG r.(?) p.(fs*)
+/. 2 c.695_696insG r.(?) p.(fs*)
?/. - c.697C>G r.(?) p.(Leu233Val)
+/. 2 c.718C>T r.(?) p.(Arg240*)
+/. - c.718C>T r.(?) p.(Arg240Ter)
+/. - c.718C>T r.(?) p.(Arg240Ter)
?/. - c.740G>A r.(?) p.(Arg247His)
+?/. - c.755A>G r.(?) p.(His252Arg)
+/. 2 c.778C>T r.(?) p.(Arg260Cys)
+/. 2 c.814T>G r.(?) p.(Tyr272Asp)
?/. - c.817G>C r.(?) p.(Val273Leu)
?/. - c.841C>T r.(?) p.(Leu281Phe)
+/. 2 c.857T>C r.(?) p.(Met286Thr)
+/. 2 c.857T>C r.(?) p.(Met286Thr)
?/. - c.902G>C r.(?) p.(Arg301Pro)
+/. 2 c.914_947del r.(?) p.(fs*)
+/. 2 c.914_947del r.(?) p.(fs*)
+/. 2 c.914_947del r.(?) p.(fs*)
+/. 2 c.914_947del r.(?) p.(fs*)
?/. - c.947C>T r.(?) p.(Pro316Leu)
-?/. - c.947C>T r.(?) p.(Pro316Leu)
-?/. - c.947C>T r.(?) p.(Pro316Leu)
-/. - c.966G>C r.(?) p.(Ala322=)
+?/. 2 c.982del r.(?) p.(Ala328ProfsTer143)
+/. 2 c.989del r.(?) p.(Pro330ArgfsTer141)
-?/. - c.990G>C r.(?) p.(Pro330=)
-?/. - c.1027G>T r.(?) p.(Ala343Ser)
-?/. - c.1027G>T r.(?) p.(Ala343Ser)
?/. - c.1049T>A r.(?) p.(Leu350Gln)
-?/. - c.1128C>A r.(?) p.(Gly376=)
?/. - c.1150C>T r.(?) p.(Pro384Ser)
-?/. - c.1193C>T r.(?) p.(Thr398Ile)
-?/. - c.1193C>T r.(?) p.(Thr398Ile)
-?/. - c.1193C>T r.(?) p.(Thr398Ile)
?/. - c.1193C>T r.(?) p.(Thr398Ile)
-?/. - c.1210G>A r.(?) p.(Gly404Arg)
-?/. - c.1234C>T r.(?) p.(His412Tyr)
-?/. - c.1234C>T r.(?) p.(His412Tyr)
?/. - c.1256C>T r.(?) p.(Pro419Leu)
-/. - c.*19T>A r.(=) p.(=)
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