Transcript #00008533 (NM_005267.4, GJA8 gene)

Transcript name gap junction protein, alpha 8, 50kDa
Gene name GJA8 (gap junction protein, alpha 8, 50kDa)
Chromosome 1
Transcript - NCBI ID NM_005267.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_005258.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

52 entries on 1 page. Showing entries 1 - 52.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-1622618_*1555328del r.? p.?
./. - c.-1609566_*869589dup r.? p.?
+?/. 2 c.9C>G r.(?) p.(Asp3Glu)
?/. - c.19_30del r.(?) p.(Gly8_Leu11del)
?/. - c.22G>A r.(?) p.(Gly8Arg)
-?/. - c.51C>T r.(?) p.(His17=)
+/. 2 c.68G>C r.(?) p.(Arg23Thr)
+?/. - c.77T>C r.(?) p.(Leu26Pro)
-?/. - c.102C>T r.(?) p.(Ile34=)
-?/. - c.117G>A r.(?) p.(Thr39=)
+/. 2 c.131T>A r.(?) p.(Val44Glu)
+?/. - c.134G>C r.(?) p.(Trp45Ser)
+/. 2 c.139G>A r.(?) p.(Asp47Asn)
+?/. - c.140A>G r.(?) p.(Asp47Gly)
+/. 2 c.142G>A r.(?) p.(Glu48Lys)
?/. - c.145C>G r.(?) p.(Gln49Glu)
+/. 2 c.145C>G r.(?) p.(Gln49Glu)
+?/. - c.154T>C r.(?) p.(Phe52Leu)
+?/. - c.163A>G r.(?) p.(Asn55Asp)
?/. - c.167C>T r.(?) p.(Thr56Ile)
+/. - c.227G>A r.(?) p.(Arg76His)
?/. - c.250T>A r.(?) p.(Phe84Ile)
+/. 2 c.262C>T r.(?) p.(Pro88Ser)
?/. - c.263C>T r.(?) p.(Pro88Leu)
./. - c.290T>G r.(?) p.(Val97Gly)
?/. - c.293A>G r.(?) p.(His98Arg)
+?/. 2 c.293A>G r.(?) p.(His98Arg)
-?/. - c.333G>A r.(?) p.(Ala111=)
-?/. - c.385G>A r.(?) p.(Val129Ile)
-?/. - c.477C>T r.(?) p.(Thr159=)
?/. - c.553C>T r.(?) p.(Arg185Trp)
?/. - c.553C>T r.(?) p.(Arg185Trp)
+?/. - c.569A>G r.(?) p.(Asn190Ser)
+/. 2 c.569A>G r.(?) p.(Asn190Ser)
+/. 2 c.593G>A r.(?) p.(Arg198Gln)
+/. 2 c.593G>A r.(?) p.(Arg198Gln)
-?/. - c.658A>G r.(?) p.(Asn220Asp)
-?/. - c.658A>G r.(?) p.(Asn220Asp)
+?/. - c.667G>A r.(?) p.(Glu223Lys)
?/. - c.727C>T r.(?) p.(Pro243Ser)
-?/. - c.741T>G r.(?) p.(Ile247Met)
-?/. - c.741T>G r.(?) p.(Ile247Met)
+/. 2 c.741T>G r.(?) p.(Ile247Met)
+?/. - c.773C>T r.(?) p.(Ser258Phe)
?/. 2 c.827C>T r.(?) p.(Ser276Phe)
+?/. 2 c.914G>A r.(?) p.(Ser305Asn)
-?/. - c.1095C>T r.(?) p.(Ala365=)
?/. - c.1105G>T r.(?) p.(Gly369Trp)
-?/. - c.1129G>A r.(?) p.(Val377Met)
-?/. - c.1161G>T r.(?) p.(Gln387His)
-?/. - c.1162T>G r.(?) p.(Ser388Ala)
+/. 2 c.1273C>T r.(?) p.(Arg425*)
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