Transcript #00000900 (NM_014728.3, FRMPD4 gene)

Transcript name FERM and PDZ domain containing 4
Gene name FRMPD4 (FERM and PDZ domain containing 4)
Chromosome X
Transcript - NCBI ID NM_014728.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_055543.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

87 entries on 1 page. Showing entries 1 - 87.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 1i_2i c.(42-2799_42-998)_(159-45940_159-44840)del r.? p.(Arg16_His54del)
+/. 1i_2i c.(42-2799_42-998)_(159-45940_159-44840)del r.? p.(Arg16_His54del)
?/. - c.42-319A>G r.(=) p.(=)
?/. - c.62G>C r.(?) p.(Gly21Ala)
+?/. - c.119_141del r.(?) p.(Glu40AlafsTer15)
?/. - c.301G>C r.(?) p.(Val101Leu)
-?/. - c.380C>T r.(?) p.(Pro127Leu)
-?/. - c.388G>A r.(?) p.(Ala130Thr)
-?/. - c.388G>A r.(?) p.(Ala130Thr)
-/. - c.396C>A r.(?) p.(Pro132=)
-?/. 5 c.438G>A r.(?) p.(=)
+/. - c.856C>T r.(?) p.(Arg286*)
+/. - c.856C>T r.(?) p.(Arg286*)
-?/. - c.894A>G r.(?) p.(Leu298=)
?/. - c.1187C>A r.(?) p.(Pro396Gln)
-/. - c.1197+12C>G r.(=) p.(=)
?/. - c.1197+12C>G r.(=) p.(=)
?/. - c.1197+12C>G r.(=) p.(=)
-?/. - c.1198-5C>T r.spl? p.?
-?/. - c.1224T>C r.(?) p.(His408=)
?/. - c.1272C>G r.(?) p.(Phe424Leu)
?/. - c.1287+8del r.(=) p.(=)
?/. - c.1287+8del r.(=) p.(=)
-/. - c.1287+25_1287+26del r.(=) p.(=)
-?/. - c.1287+26del r.(=) p.(=)
?/. - c.1287+26dup r.(=) p.(=)
-?/. - c.1398C>T r.(?) p.(His466=)
-?/. 13 c.1401C>G r.(?) p.(=)
-?/. - c.1452C>G r.(?) p.(Leu484=)
?/. - c.1471-266_1471-259del r.(=) p.(=)
?/. - c.1471-266_1471-259del r.(=) p.(=)
?/. - c.1471-258_1471-251del r.(=) p.(=)
?/. - c.1471-258_1471-251del r.(=) p.(=)
?/. - c.1478C>T r.(?) p.(Thr493Met)
-?/. - c.1524G>T r.(?) p.(Thr508=)
-?/. - c.1538G>A r.(?) p.(Arg513Gln)
?/. - c.1565T>C r.(?) p.(Ile522Thr)
-?/. - c.1602G>T r.(?) p.(Gln534His)
+/. 15 c.1657T>C r.(?) p.(Cys553Arg)
+/. - c.1657T>C r.(?) p.(Cys553Arg)
-?/. - c.1721A>C r.(?) p.(Asp574Ala)
-?/. - c.1761G>A r.(?) p.(Met587Ile)
-?/. - c.1800C>T r.(?) p.(Ala600=)
-?/. - c.1848C>A r.(?) p.(Ala616=)
+/. 15 c.1851del r.(?) p.(Cys618Valfs*8)
-?/. - c.1938G>A r.(?) p.(Pro646=)
-?/. - c.2048A>G r.(?) p.(Glu683Gly)
-?/. - c.2048A>G r.(?) p.(Glu683Gly)
-?/. - c.2072G>T r.(?) p.(Gly691Val)
-?/. - c.2243C>G r.(?) p.(Ala748Gly)
-?/. - c.2247G>A r.(?) p.(Glu749=)
-?/. - c.2250C>T r.(?) p.(Asp750=)
?/. - c.2278C>T r.(?) p.(Leu760Phe)
-?/. - c.2283G>C r.(?) p.(Val761=)
-?/. - c.2439C>A r.(?) p.(Gly813=)
?/. - c.2543C>T r.(?) p.(Ser848Phe)
-?/. - c.2553C>T r.(?) p.(Asp851=)
-?/. - c.2599A>G r.(?) p.(Asn867Asp)
?/. - c.2615C>T r.(?) p.(Thr872Met)
-?/. - c.2640C>T r.(?) p.(Ser880=)
-?/. - c.2841A>G r.(?) p.(Ala947=)
-?/. 16 c.2868C>T r.(?) p.(=)
?/. - c.2878G>A r.(?) p.(Ala960Thr)
-?/. - c.2878G>A r.(?) p.(Ala960Thr)
?/. - c.2914G>T r.(?) p.(Ala972Ser)
-?/. - c.2917G>C r.(?) p.(Ala973Pro)
-?/. - c.3067T>C r.(?) p.(Cys1023Arg)
-?/. - c.3097G>A r.(?) p.(Asp1033Asn)
-?/. - c.3268A>G r.(?) p.(Ser1090Gly)
-?/. - c.3379G>A r.(?) p.(Glu1127Lys)
?/. - c.3400C>T r.(?) p.(Pro1134Ser)
-?/. - c.3438A>C r.(?) p.(Gln1146His)
-?/. - c.3438A>C r.(?) p.(Gln1146His)
-?/. - c.3445C>T r.(?) p.(Arg1149Cys)
-?/. - c.3491A>T r.(?) p.(Asp1164Val)
-?/. - c.3491A>T r.(?) p.(Asp1164Val)
?/. - c.3565C>T r.(?) p.(Arg1189Cys)
-?/. - c.3713C>T r.(?) p.(Pro1238Leu)
-?/. - c.3813C>T r.(?) p.(His1271=)
-?/. 16 c.3937C>A r.(?) p.(=)
-?/. - c.3937C>A r.(?) p.(Arg1313=)
?/. - c.3964+237G>T r.(=) p.(=)
?/. - c.3964+237G>T r.(=) p.(=)
?/. - c.*642A>G r.(=) p.(=)
?/. - c.*642A>G r.(=) p.(=)
?/. - c.*1466T>C r.(=) p.(=)
?/. - c.*1466T>C r.(=) p.(=)
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