Transcript #00008529 (NM_000165.3, GJA1 gene)

Transcript name gap junction protein, alpha 1, 43kDa
Gene name GJA1 (gap junction protein, alpha 1, 43kDa)
Chromosome 6
Transcript - NCBI ID NM_000165.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000156.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

42 entries on 1 page. Showing entries 1 - 42.
Legend   How to query  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-16-12T>A r.(=) p.(=)
?/. - c.16G>A r.(?) p.(Ala6Thr)
+/. - c.40G>A r.(?) p.(Val14Ile)
+?/. - c.52T>C r.(?) p.(Ser18Pro)
+/. - c.68A>T r.(?) p.(Lys23Met)
+/. - c.75G>C r.(?) p.(Trp25Cys)
+?/. - c.91A>T r.(?) p.(Ile31Phe)
+/. - c.119C>T r.(?) p.(Ala40Val)
+/. - c.124G>C r.(?) p.(Glu42Gln)
+/. - c.125A>G r.(?) p.(Glu42Gly)
?/. - c.187A>G r.(?) p.(Asn63Asp)
+/. - c.293A>G r.(?) p.(Tyr98Cys)
+?/. - c.330G>C r.(?) p.(Glu110Asp)
+/. - c.389T>C r.(?) p.(Ile130Thr)
+/. - c.413G>A r.(?) p.(Gly138Asp)
?/. - c.416T>C r.(?) p.(Ile139Thr)
+?/. - c.443G>A r.(?) p.(Arg148Gln)
+?/. - c.443G>A r.(?) p.(Arg148Gln)
+/. - c.460A>G r.(?) p.(Thr154Ala)
+/. - c.605G>A r.(?) p.(Arg202His)
+/. - c.605G>A r.(?) p.(Arg202His)
+?/. - c.617A>G r.(?) p.(Lys206Arg)
?/. - c.670A>C r.(?) p.(Asn224His)
-?/. - c.717G>A r.(=) p.(=)
-/. - c.717G>A r.(?) p.(Arg239=)
-/. - c.717G>A r.(?) p.(Arg239=)
-?/. - c.717G>A r.(=) p.(=)
-/. - c.717G>A r.(?) p.(Arg239=)
-?/. - c.724G>A r.(?) p.(Gly242Arg)
-?/. - c.744T>C r.(?) p.(His248=)
-/. - c.758C>T r.(?) p.(Ala253Val)
-?/. - c.758C>T r.(?) p.(Ala253Val)
?/. - c.780T>G r.(?) p.(Cys260Trp)
-?/. - c.825C>T r.(?) p.(Thr275=)
-?/. - c.831C>T r.(?) p.(Pro277=)
-?/. - c.885T>C r.(?) p.(Asn295=)
?/. - c.899A>G r.(?) p.(Asn300Ser)
-?/. - c.932del r.(?) p.(Ala311ValfsTer37)
-?/. - c.1012C>T r.(?) p.(Pro338Ser)
-/. - c.*3dup r.(?) p.(=)
-/. - c.*3dup r.(?) p.(=)
-?/. - c.*3dup r.(?) p.(=)
Legend   How to query