Transcript #00000317

Transcript name transcript variant 2
Gene name SURF1 (surfeit 1)
Chromosome 9
Transcript - NCBI ID NM_001280787.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001267716.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

54 entries on 1 page. Showing entries 1 - 54.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-286_-263del p.(=) - - - -
./. - - c.-238_-237insTGCGGGC p.(=) - - - -
./. - - c.-222+9C>G p.(=) - - - -
./. - - c.-222+9_-222+22del p.(=) - - - -
./. - - c.-222+10G>A p.(=) - - - -
./. - - c.-222+153G>C p.(=) - - - -
./. - - c.-210A>T p.(=) - - - -
./. - - c.-161C>G p.(=) - - - -
./. - - c.-143T>G p.(=) - - - -
./. - - c.-117G>C p.(=) - - - -
./. - - c.-48T>C p.(=) - - - -
./. - - c.-25G>A p.(=) - - - -
./. - - c.-16_-7delinsAT p.(=) - - - -
./. - - c.-4-10_-4-9insAGA p.(=) - - - -
./. - - c.23A>C p.(Tyr8Ser) - - - -
./. - - c.25A>T p.(Arg9Trp) - - - -
./. - - c.39C>T p.(=) - - - -
./. - - c.44G>A p.(Gly15Glu) - - - -
+/+ - 4/8 c.44G>A p.(Gly15Glu) - missense_variant - -
./. - - c.138_139del p.(Thr47Serfs*23) - - - -
./. - - c.205A>T p.(Asn69Tyr) - - - -
./. - - c.216C>T p.(=) - - - -
./. - - c.246C>G p.(=) - - - -
./. - - c.247C>T p.(Arg83Trp) - - - -
./. - - c.259C>T p.(Gln87*) - - - -
./. - - c.261+1G>A p.? - - - -
./. - - c.276G>A p.(=) - - - -
./. - - c.277G>C p.(Asp93His) - - - -
./. - - c.304_305del p.(Glu102Asnfs*8) - - - -
./. - - c.316C>G p.(Pro106Ala) - - - -
./. - - c.352T>C p.(Trp118Arg) - - - -
./. - - c.360T>C p.(=) - - - -
./. - - c.361C>T p.(Arg121*) - - - -
./. - - c.409A>G p.(Ile137Val) - - - -
./. - - c.418A>G p.(Asn140Asp) - - - -
+/+ - 6/8 c.424C>T p.(Gln142*) - stop_gained,splice_region_variant - -
./. - - c.424C>T p.(Gln142*) - - - -
./. - - c.424+6T>C p.(=) - - - -
./. - - c.425-4_425-3insA p.? - - - -
./. - - c.425-1G>C p.? - - - -
./. - - c.427_428del p.(Ser143Hisfs*39) - - - -
./. - - c.431_432del p.(Thr144Serfs*38) - - - -
./. - - c.432_433insA p.(Val145Serfs*38) - - - -
./. - - c.445C>T p.(Pro149Ser) - - - -
./. - - c.465_466del p.(Arg155Serfs*27) - - - -
./. - - c.481G>A p.(Glu161Lys) - - - -
./. - - c.487_488insGAGCATC p.(Leu163Argfs*22) - - - -
+/+ - 7/8 c.493T>G p.(Tyr165Asp) - missense_variant - -
./. - - c.493T>G p.(Tyr165Asp) - - - -
./. - - c.499_500insAGCATCTGCAGTACATCG p.(Glu161_Ile166dup) - - - -
./. - - c.506+1G>A p.? - - - -
./. - - c.552C>T p.(=) - - - -
./. - - c.556C>T p.(Arg186Cys) - - - -
./. - - c.566C>G p.(Pro189Arg) - - - -
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