Transcript #00000673 (NM_000054.4, AVPR2 gene)

Transcript name transcript variant 1
Gene name AVPR2 (arginine vasopressin receptor 2)
Chromosome X
Transcript - NCBI ID NM_000054.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000045.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

126 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. - c.(?_-71)_(*438del_?) r.0 p.0
+?/. - c.(?_-71)_(*438_?)del r.0 p.0
./. - c.-459794_*437724dup r.0? p.0?
?/. - c.-153_-152insC - p.(=)
?/. - c.-153_-152insC - p.(=)
-?/. - c.-5C>A r.(?) p.(=)
?/. - c.26-6T>G r.(=) p.(=)
-/. - c.26-6T>G r.(=) p.(=)
-/. - c.26-6T>G r.(=) p.(=)
-/. - c.26-6T>G r.(=) p.(=)
?/. - c.26-6T>G r.(=) p.(=)
?/. - c.35G>A r.(?) p.(Gly12Glu)
-/. - c.35G>A r.(?) p.(Gly12Glu)
-?/. - c.35G>A r.(?) p.(Gly12Glu)
-/. - c.35G>A r.(?) p.(Gly12Glu)
-?/. - c.76G>A r.(?) p.(Glu26Lys)
?/. - c.94C>T r.(?) p.(Arg32Trp)
?/. - c.112C>T r.(?) p.(Arg38Trp)
-?/. - c.117G>A r.(?) p.(Ala39=)
?/. - c.117G>A r.(=) p.(=)
+?/. - c.130C>T r.(?) p.(Leu44Phe)
?/. - c.167G>A r.(?) p.(Gly56Asp)
+?/. - c.176T>C r.(?) p.(Leu59Pro)
?/. - c.200_208del r.(?) p.(Arg67_Gly69del)
-?/. - c.203G>A r.(?) p.(Arg68Gln)
+?/. - c.253G>A r.(?) p.(Asp85Asn)
+?/. - c.262G>A r.(?) p.(Val88Met)
+?/. - c.275A>T r.(?) p.(Gln92Leu)
+/. - c.310C>T r.(?) p.(Arg104Cys)
-?/. - c.317G>A r.(?) p.(Arg106His)
+?/. - c.337C>T r.(?) p.(Arg113Trp)
+?/. - c.338G>A r.(?) p.(Arg113Gln)
-?/. - c.340G>A r.(?) p.(Ala114Thr)
+/. - c.394G>C r.(?) p.(Ala132Pro)
+/. - c.409C>T r.(?) p.(Arg137Cys)
+?/. - c.409C>T r.(?) p.(Arg137Cys)
+/. - c.410G>A r.(?) p.(Arg137His)
?/. - c.427C>T r.(?) p.(Arg143Cys)
?/. - c.435G>C r.(?) p.(Met145Ile)
-?/. - c.441G>A r.(?) p.(Ala147=)
?/. - c.472C>T r.(?) p.(Arg158Trp)
-?/. - c.474G>A r.(?) p.(Arg158=)
+?/. - c.482T>C r.(?) p.(Leu161Pro)
-?/. - c.485T>C r.(?) p.(Val162Ala)
+?/. - c.491G>T r.(?) p.(Trp164Leu)
+/. - c.541C>T r.(?) p.(Arg181Cys)
-?/. - c.546C>T r.(?) p.(Asn182=)
+/. - c.553G>T r.(?) p.(Gly185Cys)
+?/. - c.604C>T r.(?) p.(Arg202Cys)
-?/. - c.643G>A r.(?) p.(Val215Met)
+?/. - c.672C>A r.(?) p.(Cys224*)
+?/. - c.673C>T r.(?) p.(Gln225*)
-?/. - c.716G>A r.(?) p.(Gly239Glu)
-?/. - c.740G>A r.(?) p.(Arg247His)
?/. - c.742C>T r.(?) p.(Arg248Cys)
?/. - c.742C>T r.(?) p.(Arg248Cys)
-?/. - c.744_755del r.(?) p.(Arg249_Arg252del)
-?/. - c.744_755del r.(?) p.(Arg249_Arg252del)
-?/. - c.744_755del r.(?) p.(Arg249_Arg252del)
-?/. - c.752G>A r.(?) p.(Arg251His)
+?/. - c.752_758del r.(?) p.(Arg251Glnfs*18)
-?/. - c.754C>T r.(?) p.(Arg252Trp)
?/. - c.828_833del r.(?) p.(Val278_Val279del)
-?/. - c.835G>A r.(?) p.(Val279Ile)
-?/. - c.891C>T r.(?) p.(Asp297=)
+/. - c.910+1G>A r.spl? p.?
+/. - c.910+1G>A r.spl? p.?
-/. - c.927A>G r.(?) p.(Leu309=)
?/. - c.927A>G r.(=) p.(=)
-/. - c.927A>G r.(?) p.(Leu309=)
?/. - c.944G>T r.(?) p.(Ser315Ile)
+?/. - c.944G>T r.(?) p.(Ser315Ile)
+?/. - c.954C>G r.(?) p.(Ser318Arg)
+/. - c.963C>A r.(?) p.(Asn321Lys)
+/. - c.968G>A r.(?) p.(Trp323Ter)
-?/. - c.975T>C r.(?) p.(Tyr325=)
?/. - c.993C>T r.(=) p.(=)
-/. - c.993C>T r.(?) p.(Ser331=)
-/. - c.993C>T r.(?) p.(Ser331=)
+/. - c.1002dup r.(?) p.(Glu335ArgfsTer22)
+/. - c.1009C>T r.(?) p.(Arg337Ter)
?/. - c.1017G>A r.(=) p.(=)
-?/. - c.1017G>A r.(?) p.(Leu339=)
-/. - c.1017G>A r.(?) p.(Leu339=)
-?/. - c.1036C>T r.(?) p.(Arg346Cys)
-?/. - c.1037G>A r.(?) p.(Arg346His)
-?/. - c.1055G>A r.(?) p.(Gly352Asp)
-/. - c.1055G>A r.(?) p.(Gly352Asp)
-?/. - c.1055G>A r.(?) p.(Gly352Asp)
-?/. - c.1071C>T r.(?) p.(Ser357=)
-?/. - c.1112C>T r.(?) p.(Ser371Leu)
?/. - c.*328G>A r.(=) p.(=)
-?/. - c.*1017G>A r.(=) p.(=)
-?/. - c.*1020G>A r.(=) p.(=)
-?/. - c.*1074C>T r.(=) p.(=)
-?/. - c.*1101C>A r.(=) p.(=)
?/. - c.*1231C>T r.(=) p.(=)
?/. - c.*2356C>T r.(=) p.(=)
-?/. - c.*2357G>A r.(=) p.(=)
-?/. - c.*2389G>A r.(=) p.(=)
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