Transcript #00000847 (NM_194277.2, FRMD7 gene)

Transcript name FERM domain containing 7
Gene name FRMD7 (FERM domain containing 7)
Chromosome X
Transcript - NCBI ID NM_194277.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_919253.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. - c.1A>G r.? p.?
+?/. - c.47T>C r.(?) p.(Phe16Ser)
+?/. 1i c.57+1G>A r.spl p.?
+/. 1i_12_ c.(57+1_58-1)_(*879_?)del r.? p.?
?/. - c.69C>T r.(=) p.(=)
-/. 2 c.69C>T r.(?) p.(=)
+?/. 2 c.70G>A r.(?) p.(Gly24Arg)
+?/. - c.134del r.(?) p.(Leu45*)
-/. - c.163-442G>A r.(=) p.(=)
+?/. - c.197A>G r.(?) p.(Gln66Arg)
-?/. 3i c.206-59_206-58del r.(?) p.(=)
-?/. - c.210T>C r.(?) p.(Pro70=)
-?/. - c.218T>C r.(?) p.(Ile73Thr)
+/. - c.(235+1_236-1)_(*3202_?)del r.? p.?
?/. - c.256C>T r.(?) p.(Pro86Ser)
?/. - c.280A>C r.(?) p.(Thr94Pro)
-?/. - c.284+6G>A r.(=) p.(=)
?/. - c.284+6G>A r.(=) p.(=)
+?/. - c.284+63T>A r.(=) p.(=)
+?/. - c.285-12A>G r.spl? p.?
+?/. - c.347A>G r.(?) p.(Asn116Ser)
+?/. - c.368C>A r.(?) p.(Ser123Tyr)
+?/. - c.383-1368A>G r.spl? p.?
-?/. 5i c.383-132G>A r.(?) p.(=)
-/. - c.383-132G>A r.(=) p.(=)
-?/. 5i c.383-132G>A r.(?) p.(=)
-/. - c.383-11C>T r.(=) p.(=)
-?/. - c.388C>T r.(?) p.(Leu130Phe)
+?/. - c.388C>T r.(?) p.(Leu130Phe)
?/. - c.450C>A r.(?) p.(Asn150Lys)
+?/. - c.506_535dup r.(?) p.(Leu178_Asp179insGlyProAlaGluSerAspIleLeuLeuLeu)
+?/. - c.536del r.(?) p.(Asp179Alafs*2)
?/. - c.567C>G r.(?) p.(Ile189Met)
+?/. - c.575A>C r.(?) p.(His192Pro)
+/. - c.597del r.(?) p.(Met200Cysfs*32)
?/. - c.605T>G r.(?) p.(Ile202Ser)
+?/. - c.637G>A r.(?) p.(Val213Met)
+?/. - c.685C>T r.(?) p.(Arg229Cys)
?/. - c.698T>C r.(?) p.(Phe233Ser)
+?/. - c.722A>G r.(?) p.(Lys241Arg)
+?/. - c.772A>G r.(?) p.(Met258Val)
+/. - c.781C>T r.(?) p.(Arg261*)
+?/. 9 c.796G>C r.(?) p.(Ala266Pro)
./. - c.824A>G r.(?) p.(His275Arg)
?/. - c.842C>T r.(?) p.(Ser281Leu)
-?/. - c.842C>T r.(?) p.(Ser281Leu)
-?/. - c.842C>T r.(?) p.(Ser281Leu)
-?/. - c.843G>A r.(?) p.(Ser281=)
-?/. - c.844G>A r.(?) p.(Glu282Lys)
+?/. - c.875T>C r.(?) p.(Leu292Pro)
+?/. - c.875T>C r.(?) p.(Leu292Pro)
+?/. - c.886G>T r.(?) p.(Gly296Cys)
?/. - c.892A>G r.(?) p.(Ser298Gly)
?/. - c.898C>T r.(?) p.(Arg300Cys)
-?/. - c.898C>T r.(?) p.(Arg300Cys)
?/. - c.899G>A r.(?) p.(Arg300His)
+?/. - c.901T>C r.(?) p.(Tyr301His)
+?/. - c.901T>C r.(?) p.(Tyr301His)
+/. - c.910C>T r.(?) p.(Arg304Ter)
+?/. - c.910C>T r.(?) p.(Arg304*)
+?/. - c.910C>T r.(?) p.(Arg304*)
+?/. - c.974G>T r.(?) p.(Arg325Met)
+?/. - c.1016C>G r.(?) p.(Ser339Cys)
+/. - c.1018del r.(?) p.(Ser340Hisfs*15)
+?/. - c.1023_1030del r.(?) p.(Asp342Leufs*2)
+?/. - c.1048C>T r.(?) p.(Gln350*)
?/. - c.1101T>C r.(=) p.(=)
-?/. - c.1217A>C r.(?) p.(His406Pro)
+?/. - c.1258del r.(?) p.(Asp420Thrfs*24)
+/. 12 c.1262del r.(?) p.(Pro421Leufs*23)
+/. 12 c.1266_1269dup r.(?) p.(Asn424Leufs*2)
-?/. - c.1363A>G r.(?) p.(Asn455Asp)
-?/. - c.1374C>T r.(?) p.(Ser458=)
-?/. - c.1375A>C r.(?) p.(Ile459Leu)
-?/. - c.1387C>T r.(?) p.(Leu463Phe)
?/. - c.1403G>A r.(?) p.(Arg468His)
-/. 12 c.1403G>A r.(?) p.(Arg468His)
+?/. - c.1424dup r.(?) p.(Tyr475*)
-?/. - c.1468A>C r.(?) p.(Ile490Leu)
-/. - c.1473G>T r.(?) p.(Met491Ile)
?/. - c.1473G>T r.(?) p.(Met491Ile)
?/. - c.1474C>T r.(?) p.(Pro492Ser)
-?/. - c.1474C>T r.(?) p.(Pro492Ser)
?/. - c.1505C>T r.(?) p.(Pro502Leu)
?/. - c.1527C>T r.(=) p.(=)
-?/. - c.1530A>C r.(?) p.(Pro510=)
?/. - c.1531A>G r.(?) p.(Ile511Val)
?/. - c.1531A>G r.(?) p.(Ile511Val)
?/. - c.1533T>C r.(=) p.(=)
-/. - c.1533T>C r.(?) p.(Ile511=)
-?/. - c.1544A>C r.(?) p.(Glu515Ala)
-?/. - c.1558C>G r.(?) p.(His520Asp)
?/. - c.1617A>C r.(?) p.(Arg539Ser)
+?/. - c.1621_1622del r.(?) p.(Lys541Glufs*17)
+?/. - c.1630C>T r.(?) p.(Gln544Ter)
-?/. - c.1643A>C r.(?) p.(Gln548Pro)
-?/. - c.1675G>A r.(?) p.(Gly559Ser)
-?/. - c.1712A>C r.(?) p.(Asp571Ala)
-?/. - c.1747C>G r.(?) p.(Gln583Glu)
-?/. - c.1751A>G r.(?) p.(Glu584Gly)
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