Transcript #00000455 (NM_020717.3, SHROOM4 gene)

Transcript name transcript variant 1
Gene name SHROOM4 (shroom family member 4)
Chromosome X
Transcript - NCBI ID NM_020717.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_065768.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.19T>G r.(?) p.(Ser7Ala)
-?/. - c.266G>A r.(?) p.(Arg89Lys)
-/. - c.266G>A r.(?) p.(Arg89Lys)
?/. - c.266G>A r.(?) p.(Arg89Lys)
?/. - c.294G>A r.(=) p.(=)
-?/. - c.404+9A>G r.(=) p.(=)
?/. 3i c.404+457C>T r.(=) p.(=)
?/. 3i c.405-455A>G r.(=) p.(=)
?/. 3i c.405-124C>T r.(=) p.(=)
?/. 3i c.405-112del r.(=) p.(=)
+?/. - c.405-1G>A r.spl? p.?
-?/. - c.436C>T r.(?) p.(Arg146Trp)
-?/. - c.437G>A r.(?) p.(Arg146Gln)
-?/. - c.439C>T r.(?) p.(His147Tyr)
?/. - c.450C>T r.(=) p.(=)
-?/. - c.450C>T r.(?) p.(Thr150=)
?/. - c.451G>A r.(?) p.(Glu151Lys)
-?/. - c.503C>T r.(?) p.(Ala168Val)
?/. - c.630G>T r.(?) p.(Glu210Asp)
-?/. - c.689G>A r.(?) p.(Arg230Gln)
-?/. - c.725G>A r.(?) p.(Arg242His)
-?/. - c.731A>G r.(?) p.(Asn244Ser)
-?/. - c.839G>A r.(?) p.(Arg280Gln)
?/. - c.1053C>A r.(?) p.(Ser351Arg)
-?/. - c.1053C>A r.(?) p.(Ser351Arg)
-?/. - c.1068G>T r.(?) p.(Glu356Asp)
?/. - c.1135G>A r.(?) p.(Val379Met)
?/. - c.1226G>A r.(?) p.(Arg409His)
?/. - c.1229A>G r.(?) p.(His410Arg)
-?/. 4 c.1315G>A r.(?) p.(Val439Ile)
-?/. - c.1315G>A r.(?) p.(Val439Ile)
-?/. - c.1358G>A r.(?) p.(Ser453Asn)
-?/. - c.1387C>A r.(?) p.(Pro463Thr)
-?/. - c.1541G>T r.(?) p.(Arg514Ile)
-?/. - c.1568C>A r.(?) p.(Ala523Asp)
-?/. - c.1627A>T r.(?) p.(Thr543Ser)
-?/. - c.1675G>A r.(?) p.(Glu559Lys)
-?/. - c.1675G>A r.(?) p.(Glu559Lys)
?/. - c.1760G>A r.(?) p.(Arg587His)
-/. - c.1879C>T r.(?) p.(Pro627Ser)
-?/. - c.1879C>T r.(?) p.(Pro627Ser)
?/. - c.1879C>T r.(?) p.(Pro627Ser)
-/. - c.1972A>G r.(?) p.(Met658Val)
-?/. - c.1972A>G r.(?) p.(Met658Val)
?/. - c.2007C>A r.(?) p.(Ser669Arg)
?/. - c.2165G>A r.(?) p.(Arg722His)
-/. - c.2165G>A r.(?) p.(Arg722His)
-?/. - c.2165G>A r.(?) p.(Arg722His)
-/. - c.2173C>T r.(?) p.(His725Tyr)
-?/. - c.2180G>A r.(?) p.(Arg727Lys)
?/. - c.2181A>T r.(?) p.(Arg727Ser)
-?/. - c.2192A>G r.(?) p.(Glu731Gly)
-?/. - c.2192A>G r.(?) p.(Glu731Gly)
-?/. - c.2228A>C r.(?) p.(Glu743Ala)
-?/. - c.2266G>A r.(?) p.(Ala756Thr)
?/. - c.2285G>C r.(?) p.(Gly762Ala)
-?/. - c.2339G>A r.(?) p.(Ser780Asn)
-?/. - c.2416C>T r.(?) p.(Pro806Ser)
-?/. - c.2419A>G r.(?) p.(Ile807Val)
?/. - c.2480A>G r.(?) p.(Asp827Gly)
?/. - c.2669G>A r.(?) p.(Cys890Tyr)
-?/. - c.2713T>C r.(?) p.(Ser905Pro)
-?/. - c.2821C>T r.(?) p.(Pro941Ser)
-?/. - c.2904T>G r.(?) p.(Pro968=)
-?/. - c.2931A>G r.(?) p.(Gly977=)
?/. - c.2958-338A>G r.(=) p.(=)
?/. - c.2958-338A>G r.(=) p.(=)
-?/. - c.2979T>C r.(?) p.(Thr993=)
-?/. - c.2983T>G r.(?) p.(Phe995Val)
-?/. - c.3104A>C r.(?) p.(Glu1035Ala)
-?/. - c.3141C>T r.(?) p.(Ala1047=)
?/. - c.3168T>C r.(=) p.(=)
-?/. - c.3240C>A r.(?) p.(Leu1080=)
-?/. - c.3367C>G r.(?) p.(Gln1123Glu)
?/. 6 c.3373_3384dup r.(?) p.(Gln1125_Gln1128dup)
-/. - c.3411_3413del r.(?) p.(Glu1151del)
-/. - c.3413_3414insGG r.(?) p.(Glu1140LysfsTer42)
-?/. - c.3415dup r.(?) p.(Glu1139GlyfsTer39)
-?/. - c.3415dup r.(?) p.(Glu1139GlyfsTer39)
-/. - c.3415dup r.(?) p.(Glu1139GlyfsTer39)
?/. - c.3416_3417insGGA r.(?) p.(Glu1151dup)
-?/. - c.3417A>G r.(?) p.(Glu1139=)
?/. - c.3426_3428del r.(?) p.(Glu1151del)
-?/. - c.3426_3428dup r.(?) p.(Glu1151dup)
?/. - c.3468A>G r.(=) p.(=)
-?/. - c.3504C>T r.(?) p.(Thr1168=)
-?/. - c.3611A>G r.(?) p.(Glu1204Gly)
-?/. - c.3611A>G r.(?) p.(Glu1204Gly)
-?/. - c.3627A>G r.(?) p.(Ala1209=)
-?/. - c.3734C>T r.(?) p.(Ser1245Leu)
?/. - c.3762-318G>A r.(=) p.(=)
?/. - c.3762-318G>A r.(=) p.(=)
+?/. - c.3772C>T r.(?) p.(Gln1258*)
-?/. - c.3899G>A r.(?) p.(Gly1300Asp)
?/. - c.3919G>A r.(?) p.(Asp1307Asn)
?/. - c.3943-140C>G r.(=) p.(=)
?/. - c.3943-140C>G r.(=) p.(=)
?/. - c.3943-63C>T r.(=) p.(=)
?/. - c.3943-63C>T r.(=) p.(=)
-?/. - c.3944T>C r.(?) p.(Ile1315Thr)
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