Transcript #00025466

Transcript name transcript variant 3
Gene name WNK1 (WNK lysine deficient protein kinase 1)
Chromosome 12
Transcript - NCBI ID NM_213655.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_998820.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

134 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.(?) -
-/. - c.258T>C r.(?) -
-/. - c.258T>C r.(?) -
-/. - 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.1074C>T r.(?) p.(Thr358=)
-?/. - c.1080T>C r.(?) p.(Pro360=)
-/. - c.1153+40C>G r.(=) p.(=)
-/. - c.1287A>G r.(?) -
-/. - c.1287A>G r.(?) -
-/. - c.1287A>G r.(?) -
-/. - 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)
-/. - c.1748del r.(?) p.(Lys583SerfsTer11)
-?/. - c.1748dup r.(?) p.(Gln584AlafsTer27)
?/. - 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.2020A>G r.(?) p.(Thr674Ala)
-?/. - c.2020A>G r.(?) p.(Thr674Ala)
-?/. - c.2052A>G r.(?) p.(Ala684=)
-/. - c.2081T>C r.(?) p.(Ile694Thr)
?/. - c.2146C>T r.(?) p.(Arg716Cys)
+/. - c.2152C>T r.(?) -
-/. - c.2155A>G r.(?) p.(Ser719Gly)
?/. - c.2172T>C r.(?) p.(Val724=)
-/. - c.2175dup r.(?) p.(Ile726HisfsTer45)
-/. - c.2175dup r.(?) p.(Ile726HisfsTer45)
-/. - c.2175dup r.(?) p.(Ile726HisfsTer45)
-/. - c.2190G>C r.(?) p.(Leu730Phe)
-/. - c.2220dup r.(?) p.(Phe741LeufsTer30)
-/. - c.2220dup r.(?) p.(Phe741LeufsTer30)
-?/. - c.2225A>C r.(?) p.(His742Pro)
-/. - c.2268T>C r.(?) p.(Pro756=)
?/. - c.2318A>C r.(?) p.(Glu773Ala)
?/. - c.2362C>T r.(?) p.(Arg788Cys)
?/. - c.2404A>G r.(?) p.(Met802Val)
+/. - c.2575C>T r.(?) p.(Gln859Ter)
-?/. - c.2659T>C r.(?) p.(Leu887=)
?/. - c.2833C>T r.(?) p.(Arg945Trp)
+/. - c.2908C>T r.(?) p.(Gln970Ter)
?/. - c.3107C>T r.(?) p.(Ala1036Val)
+/. - c.3226C>T r.(?) p.(Arg1076Ter)
+/. - c.3276dup r.(?) p.(Ser1093IlefsTer13)
+/. - c.3301C>T r.(?) p.(Gln1101Ter)
?/. - c.3326A>T r.(?) p.(Asn1109Ile)
?/. - c.3328T>A r.(?) p.(Tyr1110Asn)
?/. - c.3371G>A r.(?) p.(Gly1124Glu)
+/. - c.3447dup r.(?) p.(Gln1150SerfsTer16)
+/. - c.3492dup r.(?) p.(Asp1165Ter)
-?/. - c.3700A>G r.(?) p.(Ile1234Val)
?/. - c.3717+1G>A r.spl? p.?
-/. - c.3822G>A r.(?) -
-/. - c.3822G>A r.(?) -
-/. - c.3822G>A r.(?) -
?/. - c.3830C>T r.(?) p.(Ala1277Val)
-/. - c.3867+20_3867+21dup r.(=) p.(=)
-/. - c.3867+21del r.(=) p.(=)
-/. - c.3867+21del r.(=) p.(=)
-/. - c.3867+21dup r.(=) p.(=)
-/. - c.3867+21dup r.(=) p.(=)
-?/. - c.3867+1198C>T r.(=) p.(=)
-?/. - c.3867+1207C>T r.(=) -
-/. - c.3867+1328G>A r.(=) -
-/. - c.3867+1367G>A r.(=) -
-?/. - c.3867+1613A>T r.(=) -
?/. - c.3868-775T>G r.(=) p.(=)
-/. - c.3868-774A>T r.(=) -
-/. - c.3922A>C r.(?) p.(Thr1308Pro)
-/. - c.3922A>C r.(?) p.(Thr1308Pro)
-/. - c.3922A>C r.(?) p.(Thr1308Pro)
-/. - c.4245+4C>T r.spl? -
-/. - c.4245+4C>T r.spl? -
-/. - c.4246-5T>A r.spl? p.?
?/. - c.4334G>A r.(?) p.(Ser1445Asn)
-?/. - c.4410A>G r.(?) p.(Ser1470=)
-/. - c.4420-15T>A r.(=) p.(=)
-/. - c.4716C>T r.(?) -
-/. - c.4716C>T r.(?) -
-/. - c.4716C>T r.(?) -
?/. - c.4747C>A r.(?) p.(Pro1583Thr)
?/. - c.4747C>A r.(?) p.(Pro1583Thr)
-/. - c.4800C>T r.(?) -
-/. - c.4800C>T r.(?) -
-?/. - c.5026A>G r.(?) p.(Ile1676Val)
-?/. - c.5076C>T r.(?) p.(Ile1692=)
-?/. - c.5110A>G r.(?) p.(Thr1704Ala)
-?/. - c.5110A>G r.(?) p.(Thr1704Ala)
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