Transcript #00022847

Transcript name transcript variant 1
Gene name WNK1 (WNK lysine deficient protein kinase 1)
Chromosome 12
Transcript - NCBI ID NM_018979.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_061852.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-91T>G r.(?) p.(=)
-/. - c.-91T>G r.(?) p.(=)
-/. - c.258T>C r.(?) p.(Cys86=)
-/. - c.258T>C r.(?) p.(Cys86=)
-/. - c.258T>C r.(?) p.(Cys86=)
-/. - c.258T>C r.(=) p.(=)
-/. - c.421G>A r.(?) p.(Ala141Thr)
-/. - c.684C>T r.(?) p.(Gly228=)
-/. - c.759+15A>C r.(=) p.(=)
-/. - c.759+16_759+18dup r.(=) p.(=)
-/. - c.759+16_759+18dup r.(=) p.(=)
-/. - c.759+27G>A r.(=) p.(=)
-?/. - c.1074C>T r.(?) p.(Thr358=)
-?/. - c.1080T>C r.(?) p.(Pro360=)
-/. - c.1153+40C>G r.(=) p.(=)
-/. - c.1153+40C>G r.(=) p.(=)
-/. - c.1287A>G r.(?) p.(Ala429=)
-/. - c.1287A>G r.(?) p.(Ala429=)
-/. - c.1287A>G r.(?) p.(Ala429=)
-/. - c.1287A>G r.(=) p.(=)
-/. - c.1401-11C>A r.(=) p.(=)
-/. - c.1401-11C>A r.(=) p.(=)
-?/. - c.1401-9G>T r.(=) p.(=)
-/. - c.1479T>C r.(?) p.(Asp493=)
-/. - c.1479T>C r.(?) p.(Asp493=)
-/. - c.1512A>G r.(?) p.(Leu504=)
-/. - c.1526T>C r.(?) p.(Ile509Thr)
+/. 6 c.1591_1592del r.(?) p.(Asp531Cysfs*17)
-/. - c.1748del r.(?) p.(Lys583SerfsTer11)
-?/. - c.1748dup r.(?) p.(Gln584AlafsTer27)
+/. 7 c.1824dup r.(?) p.(Ala609Cysfs*2)
?/. - c.1855A>G r.(?) p.(Thr619Ala)
-?/. - c.1977G>A r.(?) p.(Gln659=)
-/. - c.1994C>T r.(?) p.(Thr665Ile)
-/. - c.1994C>T r.(?) p.(Thr665Ile)
-/. - c.1994C>T r.(?) p.(Thr665Ile)
-/. - c.1994C>T r.(?) p.(Thr665Ile)
-/. - c.1994C>T r.(?) p.(Thr665Ile)
-/. - c.2020A>G r.(?) p.(Thr674Ala)
-?/. - c.2020A>G r.(?) p.(Thr674Ala)
-?/. - c.2052A>G r.(?) p.(Ala684=)
-/. - c.2081T>C r.(?) p.(Ile694Thr)
?/. - c.2139+2846C>T r.(=) p.(=)
+/. - c.2139+2852C>T r.(?) p.(=)
-/. - c.2139+2855A>G r.(=) p.(=)
?/. - c.2139+2872T>C r.(=) -
-/. - c.2139+2875dup r.(=) -
-/. - c.2139+2875dup r.(=) -
-/. - c.2139+2875dup r.(=) -
-/. - c.2139+2890G>C r.(=) p.(=)
-/. - c.2139+2920dup r.(=) -
-/. - c.2139+2920dup r.(=) -
-?/. - c.2139+2925A>C r.(=) p.(=)
-/. - c.2139+2968T>C r.(=) -
?/. - c.2139+3018A>C r.(=) p.(=)
?/. - c.2139+3062C>T r.(=) p.(=)
?/. - c.2140-3390A>G r.(=) p.(=)
+/. - c.2140-3219C>T r.(=) -
-?/. - c.2140-3135T>C r.(=) -
?/. - c.2140-2961C>T r.(=) p.(=)
+/. - c.2140-2886C>T r.(=) -
?/. - c.2140-2687C>T r.(=) p.(=)
+/. - c.2140-2568C>T r.(=) -
+/. - c.2140-2518dup r.(=) -
+/. - c.2140-2493C>T r.(=) -
?/. - c.2140-2468A>T r.(=) p.(=)
?/. - c.2140-2466T>A r.(=) p.(=)
?/. - c.2140-2423G>A r.(=) p.(=)
+/. - c.2140-2347dup r.(=) -
+/. - c.2140-2302dup r.(=) -
-?/. - c.2206A>G r.(?) p.(Ile736Val)
?/. - c.2223+1G>A r.spl? p.?
-/. - c.2328G>A r.(?) p.(Gln776=)
-/. - c.2328G>A r.(?) p.(Gln776=)
-/. - c.2328G>A r.(=) p.(=)
-/. - c.2328G>A r.(?) p.(Gln776=)
?/. - c.2336C>T r.(?) p.(Ala779Val)
-/. - c.2373+20_2373+21dup r.(=) p.(=)
-/. - c.2373+21del r.(=) p.(=)
-/. - c.2373+21del r.(=) p.(=)
-/. - c.2373+21dup r.(=) p.(=)
-/. - c.2373+21dup r.(=) p.(=)
-?/. - c.2374-14C>T r.(=) p.(=)
-?/. - c.2374-5C>T r.spl? p.?
-/. - c.2490G>A r.(?) p.(Pro830=)
-/. - c.2529G>A r.(?) p.(Gln843=)
-/. - c.2529G>A r.(=) p.(=)
-?/. - c.2775A>T r.(?) p.(Pro925=)
?/. - c.3029T>G r.(?) p.(Val1010Gly)
-/. - c.3030A>T r.(?) p.(Val1010=)
-/. - c.3166A>C r.(?) p.(Thr1056Pro)
-/. - c.3166A>C r.(?) p.(Thr1056Pro)
-/. - c.3166A>C r.(?) p.(Thr1056Pro)
-/. - c.3166A>C r.(?) p.(Thr1056Pro)
+/. 13 c.3166C>A r.(?) p.(Pro1056Thr)
-/. - c.3209+54C>T r.(=) p.(=)
-/. - c.3489+4C>T r.spl? p.?
-/. - c.3489+4C>T r.spl? p.(=)
-/. - c.3489+4C>T r.spl? p.?
-/. - c.3490-5T>A r.spl? p.?
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