Transcript #00005627

Transcript name family with sequence similarity 47, member C
Gene name FAM47C (family with sequence similarity 47, member C)
Chromosome X
Transcript - NCBI ID NM_001013736.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001013758.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-15C>A r.(=) p.(=)
?/? c.-11C>A r.(=) p.(=)
?/? c.3del r.(?) p.(Asp3Thrfs*36)
?/? c.6G>T r.(=) p.(=)
?/? c.11A>G r.(?) p.(Gln4Arg)
?/? c.16C>T r.(?) p.(Pro6Ser)
?/? c.37C>A r.(?) p.(Pro13Thr)
?/? c.97C>T r.(?) p.(Arg33Cys)
?/? c.110G>T r.(?) p.(Arg37Leu)
?/? c.116_117del r.(?) p.(Arg39Ilefs*27)
?/? c.155C>A r.(?) p.(Thr52Lys)
?/? c.181G>A r.(?) p.(Gly61Ser)
?/? c.222C>T r.(=) p.(=)
?/? c.255T>G r.(=) p.(=)
?/? c.275G>A r.(?) p.(Ser92Asn)
?/? c.309G>A r.(=) p.(=)
?/? c.316A>G r.(?) p.(Lys106Glu)
?/? c.324G>T r.(=) p.(=)
?/? c.331C>T r.(?) p.(Gln111*)
?/? c.345G>A r.(=) p.(=)
?/? c.353T>A r.(?) p.(Val118Glu)
?/? c.375G>A r.(=) p.(=)
?/? c.422T>C r.(?) p.(Met141Thr)
?/? c.439C>T r.(=) p.(=)
?/? c.487G>A r.(?) p.(Gly163Ser)
?/? c.522A>C r.(?) p.(Glu174Asp)
?/? c.524C>A r.(?) p.(Pro175His)
?/? c.541T>C r.(?) p.(Tyr181His)
?/? c.552G>A r.(=) p.(=)
?/? c.590G>T r.(?) p.(Cys197Phe)
?/? c.617C>T r.(?) p.(Pro206Leu)
?/? c.636G>T r.(=) p.(=)
?/? c.690G>A r.(=) p.(=)
?/? c.736C>T r.(?) p.(Leu246Phe)
?/? c.766T>C r.(?) p.(Ser256Pro)
?/? c.790G>A r.(?) p.(Glu264Lys)
?/? c.793A>G r.(?) p.(Thr265Ala)
?/? c.861C>T r.(=) p.(=)
?/? c.869G>A r.(?) p.(Arg290His)
?/? c.887G>C r.(?) p.(Arg296Pro)
?/? c.955C>T r.(?) p.(Arg319Cys)
?/? c.956G>T r.(?) p.(Arg319Leu)
?/? c.999G>C r.(?) p.(Glu333Asp)
?/? c.1037C>T r.(?) p.(Pro346Leu)
?/? c.1067C>T r.(?) p.(Pro356Leu)
?/? c.1085G>A r.(?) p.(Arg362His)
?/? c.1094C>A r.(?) p.(Pro365His)
?/? c.1159G>A r.(?) p.(Val387Ile)
?/? c.1195G>A r.(?) p.(Val399Met)
?/? c.1211C>T r.(?) p.(Pro404Leu)
?/? c.1231A>G r.(?) p.(Ile411Val)
?/? c.1243C>T r.(?) p.(Arg415Cys)
?/? c.1351C>T r.(?) p.(Arg451Cys)
?/? c.1375G>A r.(?) p.(Val459Met)
?/? c.1387C>T r.(?) p.(His463Tyr)
?/? c.1420C>A r.(?) p.(Leu474Ile)
?/? c.1459C>T r.(?) p.(Arg487Cys)
?/? c.1516C>T r.(?) p.(Arg506Cys)
?/? c.1518C>T r.(=) p.(=)
?/? c.1531C>T r.(?) p.(Arg511Cys)
?/? c.1562A>G r.(?) p.(His521Arg)
?/? c.1612C>T r.(?) p.(Pro538Ser)
?/? c.1627G>A r.(?) p.(Val543Ile)
?/? c.1644A>G r.(=) p.(=)
?/? c.1676G>A r.(?) p.(Arg559His)
?/? c.1680A>G r.(=) p.(=)
?/? c.1725C>T r.(=) p.(=)
?/? c.1769G>C r.(?) p.(Arg590Pro)
?/? c.1795C>T r.(?) p.(Pro599Ser)
?/? c.1855C>T r.(?) p.(Arg619Cys)
?/? c.1888C>A r.(?) p.(Leu630Ile)
?/? c.1891C>T r.(?) p.(Arg631Cys)
?/? c.1939C>T r.(?) p.(Pro647Ser)
?/? c.1960C>T r.(?) p.(Leu654Phe)
?/? c.1997_1998insC r.(?) p.(Glu669Glyfs*28)
?/? c.2003C>T r.(?) p.(Pro668Leu)
?/? c.2057G>A r.(?) p.(Arg686His)
?/? c.2079G>A r.(=) p.(=)
?/? c.2110C>T r.(?) p.(Pro704Ser)
?/? c.2120C>T r.(?) p.(Pro707Leu)
?/? c.2128C>T r.(?) p.(Arg710Trp)
?/? c.2140C>A r.(?) p.(Leu714Ile)
?/? c.2146del r.(?) p.(Ala716Argfs*109)
?/? c.2146G>C r.(?) p.(Ala716Pro)
?/? c.2165G>A r.(?) p.(Arg722His)
?/? c.2184G>A r.(=) p.(=)
?/? c.2196G>A r.(=) p.(=)
?/? c.2215C>T r.(?) p.(Arg739Cys)
?/? c.2236C>T r.(?) p.(Arg746Trp)
?/? c.2273G>A r.(?) p.(Arg758His)
?/? c.2279C>G r.(?) p.(Ser760Cys)
?/? c.2287C>T r.(?) p.(Arg763Cys)
?/? c.2381G>A r.(?) p.(Arg794His)
?/? c.2383C>T r.(?) p.(Arg795*)
?/? c.2385A>T r.(=) p.(=)
?/? c.2421T>C r.(=) p.(=)
?/? c.2422C>T r.(?) p.(Arg808Trp)
?/? c.2439C>T r.(=) p.(=)
?/? c.2450C>T r.(?) p.(Thr817Ile)
?/? c.2463G>A r.(=) p.(=)
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