Transcript #00023830 (NM_172107.2, KCNQ2 gene)

Transcript name transcript variant 1
Gene name KCNQ2 (potassium voltage-gated channel, KQT-like subfamily, member 2)
Chromosome 20
Transcript - NCBI ID NM_172107.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_742105.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

284 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? 1_4i c.(?_-177)_690+?del r.(?) p=0?
-/. - c.-150C>A r.(?) p.(=)
-/. - c.-88G>T r.(?) p.(=)
-/. - c.-88G>T r.(=) p.(=)
+?/. 1 c.45del r.(?) p.(Ser15Argfs*6)
?/. 1 c.62A>C r.(?) p.(Lys21Thr)
-?/. - c.204C>A r.(?) p.(Pro68=)
+/. - c.263C>T r.(?) p.(Pro88Leu)
+/. - c.296_296+1insTC r.spl? p.?
?/. - c.296+61C>G r.(=) p.(=)
-/. - c.297-118G>A r.(=) p.(=)
-/. - c.297-84G>T r.(=) p.(=)
-?/. - c.297-18C>T r.(=) p.(=)
-?/. - c.297-18C>T r.(=) p.(=)
-?/. - c.315C>T r.(?) p.(Ser105=)
+/. - c.316T>G r.(?) p.(Cys106Gly)
+?/. 2 c.319C>T r.(?) p.(Leu107Phe)
?/. - c.319C>T r.(?) p.(Leu107Phe)
+/? 2 c.333_334del r.(?) p.(Ser113Hisfs*6)
+/. - c.365C>T r.(?) p.(Ser122Leu)
+/. - c.365C>T r.(?) p.(Ser122Leu)
?/. - c.377T>G r.(?) p.(Leu126Arg)
?/. - c.377T>G r.(?) p.(Leu126Arg)
+?/. - c.387+1G>C r.(?) p.(?)
+/. - c.387+2T>C r.spl? p.?
-?/. - c.388-51C>T r.(=) p.(=)
-/. - c.388-26G>T r.(=) p.(=)
-/. - c.388-26G>T r.(=) p.(=)
+?/. 3 c.388G>A r.(?) p.(Glu130Lys)
+?/. - c.394G>A r.(?) p.(Val132Met)
+/. - c.430C>T r.(?) p.(Arg144Trp)
+/. - c.430C>T r.(?) p.(Arg144Trp)
+/. - c.431G>A r.(?) p.(Arg144Gln)
+/. - c.450C>A r.(=) p.(Cys150*)
./. - c.466G>C r.(?) p.(Gly156Arg)
+/. - c.472dup r.(=) p.(Arg158Lysfs*15)
./. - c.493C>T r.(?) p.(Arg165Trp)
+/. - c.505T>C r.(?) p.(Cys169Arg)
?/. - c.533C>T r.(?) p.(Ala178Val)
-?/. - c.563A>G r.(?) p.(Gln188Arg)
+/. - c.566G>T r.(?) p.(Gly189Val)
+?/. - c.578C>T r.(?) p.(Ala193Val)
+/. - c.584C>T r.(?) p.(Ser195Phe)
+/. - c.587C>T r.(?) p.(Ala196Val)
+/? 4 c.587C>T r.(?) p.(Ala196Val)
+/. - c.587C>T r.(?) p.(Ala196Val)
+/. - c.587C>T r.(?) p.(Ala196Val)
+/. - c.593G>A r.(=) p.(Arg198Gln)
?/. 4 c.601C>G r.(?) p.(Arg201Gly)
+/. 4 c.601C>T r.(?) p.(Arg201Cys)
+/. - c.601C>T r.(?) p.(Arg201Cys)
+/. - c.602G>A r.(?) p.(Arg201His)
+/. - c.602G>A r.(?) p.(Arg201His)
+/. - c.602G>A r.(?) p.(Arg201His)
?/? 4 c.619C>T r.(?) p.(Arg207Trp)
+/. - c.620G>A r.(?) p.(Arg207Gln)
+/. - c.620G>A r.(?) p.(Arg207Gln)
+?/. - c.628C>T r.(?) p.(Arg210Cys)
+/. - c.629G>A r.(?) p.(Arg210His)
+?/. 4 c.629G>C r.(?) p.(Arg210Pro)
+/. - c.636C>A r.(?) p.(Asp212Glu)
+/. - c.643G>A r.(?) p.(Gly215Arg)
+/. - c.665G>A r.(?) p.(Gly222Asp)
+/. - c.690+2T>C r.spl? p.?
?/. - c.690+23_690+24insA r.(=) p.(=)
-?/. - c.691-31_691-29del r.(=) p.(=)
+/. - c.693G>C r.(?) p.(Glu231Asp)
?/. - c.708G>T r.(?) p.(Trp236Cys)
?/. - c.709T>C r.(=) p.(Tyr237His)
+/. - c.710A>G r.(?) p.(Tyr237Cys)
+?/. - c.710A>G r.(?) p.(Tyr237Cys)
-/. - c.714C>T r.(?) p.(Ile238=)
+/. - c.727C>T r.(?) p.(Leu243Phe)
+/. - c.740C>T r.(?) p.(Ser247Leu)
+/. - c.740C>T r.(?) p.(Ser247Leu)
+?/. - c.753C>G r.(?) p.(Tyr251*)
-?/. - c.754T>C r.(?) p.(Leu252=)
?/. - c.757G>T r.(=) p.(Ala253Ser)
?/. 5 c.760G>A r.(?) p.(Glu254Lys)
+?/? 5 c.769del r.(?) p.(Glu257Argfs*16)
+?/. 5 c.775G>T r.(?) p.(Asp259Tyr)
+?/. - c.782T>G r.(?) p.(Phe261Cys)
./. - c.788C>T r.(?) p.(Thr263Ile)
+/. - c.792C>A r.(?) p.(Tyr264Ter)
-?/. - c.792C>T r.(?) p.(Tyr264=)
+/. 5 c.793G>A r.(?) p.(Ala265Thr)
./. - c.793G>A r.(?) p.(Ala265Thr)
+/. - c.793G>A r.(?) p.(Ala265Thr)
+/. - c.794C>T r.(?) p.(Ala265Val)
+/. 5 c.803T>C r.(?) p.(Leu268Pro)
+?/. - c.806G>C r.(?) p.(Trp269Ser)
+?/. - c.816+1G>T r.spl? p.?
+?/. - c.816+5G>A r.spl? p.?
?/. - c.817-28C>T r.(=) p.(=)
-?/. - c.817-11C>T r.(=) p.(=)
?/. - c.820A>T r.(=) p.(Thr274Ser)
+?/. 6 c.821C>T r.(?) p.(Thr274Met)
-?/. - c.840C>T r.(?) p.(Tyr280=)
+/. - c.841G>A r.(?) p.(Gly281Arg)
./. - c.841G>A r.(?) p.(Gly281Arg)
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