Transcript #00000181

Transcript name fukutin related protein, transcript variant 1
Gene name FKRP (fukutin related protein)
Chromosome 19
Transcript - NCBI ID NM_024301.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_077277.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

951 entries on 10 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. 1 c.-621C>G r.(=) p.(=)
-/. 1 c.-621C>G r.(=) p.(=)
-/. 1 c.-621C>G r.(=) p.(=)
-/. 1 c.-621C>G r.(=) p.(=)
-/. 1 c.-621C>G r.(=) p.(=)
-/. 1 c.-621C>G r.(=) p.(=)
-/. 1 c.-621C>G r.(=) p.(=)
-/. 1 c.-621C>G r.(=) p.(=)
-/. 1 c.-621C>G r.(=) p.(=)
-/. 1 c.-621C>G r.(=) p.(=)
-/. 1 c.-621C>G r.(=) p.(=)
-/. 1 c.-621C>G r.(=) p.(=)
-/. 1 c.-621C>G r.(=) p.(=)
-/. 1 c.-621C>G r.(=) p.(=)
-/. 1 c.-621C>G r.(=) p.(=)
-/. 1 c.-621C>G r.(=) p.(=)
?/. _1 c.-304G>C r.(=) p.(=)
-?/. - c.-304G>C r.(?) p.(=)
?/. - c.-302C>A r.(?) p.(=)
-?/. - c.-253+17_-253+26dup r.(=) p.(=)
-?/. - c.-253+22_-253+26del r.(=) p.(=)
-?/. - c.-253+22_-253+26del r.(=) p.(=)
?/. 1i c.-253+22_-253+26dup r.(?) p.(=)
-?/. - c.-253+22_-253+26dup r.(=) p.(=)
?/. - c.-253+298_-253+300dup r.(=) p.(=)
-/. 3 c.-190-84C>T r.(?) p.(=)
-/. 3 c.-44C>T r.(?) p.(=)
-?/. - c.-40+8C>G r.(=) p.(=)
-/. 4 c.-34C>T r.-34c>u p.=
-/. 4 c.-34C>T r.(?) p.(=)
-/. 4 c.-34C>T r.(?) p.(=)
-/. - c.-34C>T r.(?) p.(=)
+/. 1_4 c.? r.? p.?
+/. 1_4 c.? r.? p.?
+/. 1_4 c.? r.? p.?
+/. 1_4 c.? r.? p.?
+/. 1_4 c.? r.? p.?
+/. 1_4 c.? r.? p.?
?/. 1_4 c.? r.? p.?
?/. 1_4 c.? r.? p.?
?/. 1_4 c.? r.? p.?
?/. 1_4 c.? r.? p.?
+/. 1_4 c.? r.? p.?
+/. 4 c.1A>G r.(?) p.0?
+/. 4 c.1A>G r.(?) p.0?
+/. 4 c.1A>G r.(?) p.0?
+/. 4 c.1A>G r.(?) p.0?
+/. 4 c.1A>G r.(?) p.0?
+/. 4 c.1A>G r.(?) p.0?
+/. 4 c.3G>T r.(?) p.0?
-?/. - c.11C>G r.(?) p.(Thr4Ser)
?/. 4 c.11C>G r.(?) p.(Thr4Ser)
?/. 4 c.43A>C r.(?) p.(Thr15Pro)
?/. 4 c.54T>A r.(?) p.(=)
-/. 4 c.63C>A r.(?) p.(=)
-/. 4 c.63C>T r.(?) p.(=)
+?/. - c.74C>A r.(?) p.(Ser25*)
+?/. - c.76_77del r.(?) p.(Trp26Alafs*6)
?/. 4 c.82C>G r.(?) p.(Gln28Glu)
-?/. - c.82C>G r.(?) p.(Gln28Glu)
?/. - c.82C>G r.(?) p.(Gln28Glu)
?/. 4 c.85C>T r.(?) p.(His29Tyr)
-/. - c.114G>T r.(?) p.(=)
-/. 4 c.135C>T r.(?) p.(=)
-/. - c.135C>T r.(?) p.(=)
-/. - c.135C>T r.(?) p.(=)
-/. 4 c.135C>T r.(?) p.(=)
-/. 4 c.135C>T r.135c>u p.=
-/. 4 c.135C>T r.(?) p.(=)
+/. 4 c.135C>T r.(?) p.(=)
+/. 4 c.135C>T r.(?) p.(=)
-/. - c.135C>T r.(?) p.(=)
-/. 4 c.135C>T r.(?) p.(=)
-?/-? 4 c.135C>T r.(?) p.(=)
+?/. - c.137del r.(?) p.(Gly46Alafs*22)
?/. 4 c.143G>C r.(?) p.(Arg48Pro)
?/. 4 c.151G>A r.(?) p.(Val51Ile)
+/. 4 c.154_158dup r.(?) p.(Arg54Trpfs*14)
?/. 4 c.155T>A r.(?) p.(Leu52Gln)
?/. 4 c.155T>A r.(?) p.(Leu52Gln)
+/. 4 c.158_162dup r.(?) p.(Glu55Cysfs*15)
+/. 4 c.158_162dup r.(?) p.(Glu55Cysfs*15)
+?/. 4 c.158_162dup r.(?) p.(Glu55Cysfs*15)
+/. 4 c.158_162dup r.(?) p.(Glu55Cysfs*15)
+/. - c.160C>T r.(?) p.(Arg54Trp)
+/. 4 c.160C>T r.(?) p.(Arg54Trp)
+/. 4 c.160C>T r.(?) p.(Arg54Trp)
+/. 4 c.162_165dup r.(?) p.(Phe56Glyfs*6)
+/. 4 c.162_165dup r.(?) p.(Phe56Glyfs*6)
+/. 4 c.162_165dup r.(?) p.(Phe56Glyfs*6)
+/. 4 c.163G>C r.(?) p.(Glu55Gln)
+/. 4 c.163G>C r.(?) p.(Glu55Gln)
+/. 4 c.163G>C r.(?) p.(Glu55Gln)
?/. 4 c.169G>A r.(?) p.(Glu57Lys)
?/. - c.169G>A r.(?) p.Glu57Lys
-/. - c.192C>T r.(?) p.(=)
-/. 4 c.192C>T r.(?) p.(=)
-/. - c.192C>T r.(?) p.(=)
?/. 4 c.192C>T r.(?) p.(=)
?/. 4 c.192C>T r.(?) p.(=)
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