Transcript #00000318

Transcript name transcript variant 1
Gene name SURF1 (surfeit 1)
Chromosome 9
Transcript - NCBI ID NM_003172.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_003163.1
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.-11_13del p.? - - - -
./. - - c.38_39insTGCGGGC p.(Leu16Glyfs*46) - - - -
./. - - c.54+9C>G p.(=) - - - -
./. - - c.54+9_54+22del p.(=) - - - -
./. - - c.54+10G>A p.(=) - - - -
./. - - c.106+1G>C p.? - - - -
./. - - c.118A>T p.(Arg40Trp) - - - -
./. - - c.167C>G p.(Ala56Gly) - - - -
./. - - c.185T>G p.(Leu62Arg) - - - -
./. - - c.211G>C p.(Val71Leu) - - - -
./. - - c.280T>C p.(=) - - - -
./. - - c.303G>A p.(=) - - - -
./. - - c.312_321delinsAT p.(Leu105*) - - - -
./. - - c.324-10_324-9insAGA p.(=) - - - -
./. - - c.350A>C p.(Tyr117Ser) - - - -
./. - - c.352A>T p.(Arg118Trp) - - - -
./. - - c.366C>T p.(=) - - - -
+/+ - 5/9 c.371G>A p.(Gly124Glu) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.371G>A p.(Gly124Glu) - - - -
./. - - c.465_466del p.(Thr156Serfs*23) - - - -
./. - - c.532A>T p.(Asn178Tyr) - - - -
./. - - c.543C>T p.(=) - - - -
./. - - c.573C>G p.(=) - - - -
./. - - c.574C>T p.(Arg192Trp) - - - -
./. - - c.586C>T p.(Gln196*) - - - -
./. - - c.588+1G>A p.? - - - -
./. - - c.603G>A p.(=) - - - -
./. - - c.604G>C p.(Asp202His) - - - -
./. - - c.631_632del p.(Glu211Asnfs*8) - - - -
./. - - c.643C>G p.(Pro215Ala) - - - -
./. - - c.679T>C p.(Trp227Arg) - - - -
./. - - c.687T>C p.(=) - - - -
./. - - c.688C>T p.(Arg230*) - - - -
./. - - c.736A>G p.(Ile246Val) - - - -
./. - - c.745A>G p.(Asn249Asp) - - - -
+/+ - 7/9 c.751C>T p.(Gln251*) - stop_gained,splice_region_variant - -
./. - - c.751C>T p.(Gln251*) - - - -
./. - - c.751+6T>C p.(=) - - - -
./. - - c.752-4_752-3insA p.? - - - -
./. - - c.752-1G>C p.? - - - -
./. - - c.754_755del p.(Ser252Hisfs*39) - - - -
./. - - c.758_759del p.(Thr253Serfs*38) - - - -
./. - - c.759_760insA p.(Val254Serfs*38) - - - -
./. - - c.772C>T p.(Pro258Ser) - - - -
./. - - c.792_793del p.(Arg264Serfs*27) - - - -
./. - - c.808G>A p.(Glu270Lys) - - - -
./. - - c.814_815insGAGCATC p.(Leu272Argfs*22) - - - -
./. - - c.820T>G p.(Tyr274Asp) - - - -
+/+ - 8/9 c.820T>G p.(Tyr274Asp) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.826_827insAGCATCTGCAGTACATCG p.(Glu270_Ile275dup) - - - -
./. - - c.833+1G>A p.? - - - -
./. - - c.879C>T p.(=) - - - -
./. - - c.883C>T p.(Arg295Cys) - - - -
./. - - c.893C>G p.(Pro298Arg) - - - -
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