Transcript #00018822 (NM_015503.2, SH2B1 gene)

Transcript name transcript variant 2
Gene name SH2B1 (SH2B adaptor protein 1)
Chromosome 16
Transcript - NCBI ID NM_015503.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_056318.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -
Date created 0000-00-00 00:00:00 +00:19 (LMT)
Date last edited N/A


Variants

73 entries on 1 page. Showing entries 1 - 73.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-7347209_*447459del r.0? p.0?
./. - c.-1694265_*3003898dup - -
+?/. - c.-777415_*5715214del r.0? p.0?
-?/. - c.-21987C>T r.(?) p.(=)
?/. - c.-21794C>T r.(?) p.(=)
-/. - c.-21689A>G r.(?) p.(=)
?/. - c.-21674G>A r.(?) p.(=)
?/. - c.-2244C>T r.(?) p.(=)
?/. - c.-108G>A r.(?) p.(=)
?/. - c.49C>A r.(?) p.(Pro17Thr)
+?/. - c.52C>G r.(?) p.(Leu18Val)
-?/. - c.80G>A r.(?) p.(Arg27Gln)
+/. - c.91del r.(?) p.(Glu31SerfsTer65)
?/. - c.127C>T r.(?) p.(Arg43Cys)
+/. - c.129_130dup r.(?) p.(Arg44ProfsTer53)
?/. - c.200G>A r.(?) p.(Arg67His)
-?/. - c.222G>A r.(?) p.(Gln74=)
-?/. - c.244C>A r.(?) p.(=)
-?/. - c.245G>A r.(?) p.(Arg82Gln)
?/. - c.245G>A r.(?) p.(Arg82Gln)
?/. - c.269C>A r.(?) p.(Pro90His)
?/. - c.269C>A r.(?) p.(Pro90His)
-?/. - c.296C>T r.(?) p.(Ala99Val)
?/. - c.305C>T r.(?) p.(Ser102Leu)
?/. - c.343G>A r.(?) p.(Gly115Arg)
?/. - c.353C>T r.(?) p.(Ala118Val)
?/. - c.524C>A r.(?) p.(Thr175Asn)
-?/. - c.524C>A r.(?) p.(Thr175Asn)
?/. - c.568G>T r.(?) p.(Gly190Cys)
?/. - c.577G>A r.(?) p.(Val193Ile)
+/. - c.696A>T r.(?) p.(Arg232Ser)
-/. - c.705G>A r.(?) p.(Arg235=)
-?/. - c.808C>T r.(?) p.(Arg270Trp)
-?/. - c.843A>T r.(?) p.(Gly281=)
-?/. - c.940-16C>T r.(=) p.(=)
-?/. - c.1018C>A r.(?) p.(Arg340=)
-?/. - c.1041+5_1041+8dup r.spl? p.?
+/. - c.1141C>T r.(?) p.(Pro381Ser)
?/. - c.1217G>A r.(?) p.(Ser406Asn)
-?/. - c.1229C>T r.(?) p.(Ser410Phe)
?/. - c.1297C>T r.(?) p.(Arg433Cys)
-?/. - c.1309+15T>A r.(=) p.(=)
-?/. - c.1310-8T>A r.(=) p.(=)
?/. - c.1318G>T r.(?) p.(Gly440Trp)
?/. - c.1394T>C r.(?) p.(Met465Thr)
?/. - c.1402C>G r.(?) p.(Leu468Val)
?/. - c.1460T>C r.(?) p.(Val487Ala)
?/. - c.1465C>T r.(?) p.(Pro489Ser)
?/. - c.1492G>C r.(?) p.(Asp498His)
?/. - c.1498C>T r.(?) p.(Pro500Ser)
-?/. - c.1587C>T r.(?) p.(His529=)
?/. - c.1664G>A r.(?) p.(Arg555His)
-?/. - c.1707C>T r.(?) p.(=)
?/. - c.1820A>G r.(?) p.(His607Arg)
?/. - c.1897+3_1897+11del r.spl? p.?
-?/. - c.1897+36G>A r.(=) p.(=)
?/. - c.1968C>T r.(?) p.(Thr656=)
-?/. - c.1998-5T>C r.spl? p.?
-?/. - c.*72C>T r.(=) p.(=)
-?/. - c.*72C>T r.(=) p.(=)
-?/. - c.*88A>G r.(=) p.(=)
-/. - c.*94A>G r.(=) p.(=)
?/. - c.*108_*109del r.(=) p.(=)
-?/. - c.*133G>A r.(=) p.(=)
?/. - c.*150C>T r.(=) p.(=)
-?/. - c.*167G>A r.(=) p.(=)
-?/. - c.*175G>A r.(=) p.(=)
?/. - c.*175_*192del r.(=) p.(=)
-?/. - c.*313G>C r.(=) p.(=)
-?/. - c.*340G>A r.(=) p.(=)
+/. - c.*5306G>T r.(=) p.(=)
+/. - c.*5306G>T r.(=) p.(=)
+?/. - c.*5652G>T r.(=) p.(=)
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