Transcript #00008852

Transcript name kelch domain containing 7B
Gene name KLHDC7B (kelch domain containing 7B)
Chromosome 22
Transcript - NCBI ID NM_138433.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_612442.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

60 entries on 1 page. Showing entries 1 - 60.
Legend  

Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.50G>A r.(?) p.(Ser17Asn)
?/? c.52G>A r.(?) p.(Val18Ile)
?/? c.146T>C r.(?) p.(Ile49Thr)
?/? c.276A>G r.(=) p.(=)
?/? c.279C>G r.(?) p.(Asp93Glu)
?/? c.309C>T r.(=) p.(=)
?/? c.335C>T r.(?) p.(Pro112Leu)
?/? c.518C>T r.(?) p.(Thr173Met)
?/? c.539del r.(?) p.(Lys181Serfs*65)
?/? c.580G>T r.(?) p.(Val194Leu)
?/? c.676G>T r.(?) p.(Val226Leu)
?/? c.692A>G r.(?) p.(Gln231Arg)
?/? c.758T>C r.(?) p.(Val253Ala)
?/? c.777C>G r.(=) p.(=)
?/? c.812_814del r.(?) p.(Leu272del)
?/? c.819C>T r.(=) p.(=)
?/? c.828C>T r.(=) p.(=)
?/? c.870C>T r.(=) p.(=)
?/? c.902del r.(?) p.(Gly302Alafs*34)
?/? c.918G>C r.(?) p.(Glu306Asp)
?/? c.920A>G r.(?) p.(Glu307Gly)
?/? c.929C>T r.(?) p.(Ala310Val)
?/? c.932_933insG r.(?) p.(Ala312Glyfs*276)
?/? c.959C>T r.(?) p.(Ala320Val)
?/? c.997C>T r.(?) p.(Arg333Trp)
?/? c.1091G>T r.(?) p.(Gly364Val)
?/? c.1095C>T r.(=) p.(=)
?/? c.1108G>A r.(?) p.(Val370Ile)
?/? c.1138C>G r.(?) p.(Pro380Ala)
?/? c.1146C>G r.(=) p.(=)
?/? c.1152C>G r.(?) p.(Ile384Met)
?/? c.1157G>A r.(?) p.(Ser386Asn)
?/? c.1207C>T r.(=) p.(=)
?/? c.1221C>T r.(=) p.(=)
?/? c.1230C>T r.(=) p.(=)
?/? c.1248C>T r.(=) p.(=)
?/? c.1293C>T r.(=) p.(=)
?/? c.1294G>A r.(?) p.(Ala432Thr)
?/? c.1306G>A r.(?) p.(Ala436Thr)
?/? c.1346G>A r.(?) p.(Arg449His)
?/? c.1359C>T r.(=) p.(=)
?/? c.1366G>A r.(?) p.(Gly456Arg)
?/? c.1395G>A r.(=) p.(=)
?/? c.1432T>C r.(?) p.(Tyr478His)
?/? c.1443C>T r.(=) p.(=)
?/? c.1447C>T r.(?) p.(Arg483Trp)
?/? c.1467G>T r.(=) p.(=)
?/? c.1476G>A r.(=) p.(=)
?/? c.1510G>A r.(?) p.(Val504Met)
?/? c.1519G>A r.(?) p.(Ala507Thr)
?/? c.1530C>T r.(=) p.(=)
?/? c.1537A>C r.(?) p.(Thr513Pro)
?/? c.1546G>A r.(?) p.(Gly516Ser)
?/? c.1579C>T r.(?) p.(Pro527Ser)
?/? c.1598A>G r.(?) p.(His533Arg)
?/? c.1653C>A r.(=) p.(=)
?/? c.1703C>A r.(?) p.(Pro568His)
?/? c.1722C>T r.(=) p.(=)
?/? c.1781T>C r.(?) p.(Leu594Pro)
?/? c.1783T>C r.(?) p.(*595Argext*54)
Legend