SH3BP2 (NM_003023.4) sequence variants
(3BP2/CRBM/CRPM/RES4-23/FLJ42079/FLJ54978/SH3-domain binding protein 2)

Editor(s): Ernst REICHENBERGER   

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Total current number of sequence variants for SH3BP2 : 18

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

Usual name*
HGVS sequence name
HGVS protein name
Simple variant
Complex alleles
408delCexon 3c.147delp.Phe50Leufs*26
T107Mexon 4c.320C>Tp.Thr107Met
A155Vexon 6c.464C>Tp.Ala155Val
c.1243C>Texon 9c.1243C>Tp.Arg415*
R415Pexon 9c.1244G>C p.Arg415Pro
R415Qexon 9c.1244G>Ap.Arg415Gln
P418Texon 9c.1252C>Ap.Pro418Thr
P418Lexon 9c.1253C>Tp.Pro418Leu
P418Hexon 9c.1253C>Ap.Pro418His
P418Rexon 9c.1253C>G p.Pro418Arg
P418Haexon 9c1253_1254delCCinsATp.Pro418His
D419Nexon 9c.1255G>Ap.Asp419Asn
D419Yexon 9c.1255G>Tp.Asp419Tyr
D419Gexon 9c.1256A>Gp.Asp419Gly
G420R G>C exon 9c.1258G>C p.Gly420Arg
G420R G>Aexon 9c.1258G>Ap.Gly420Arg
G420Eexon 9c.1259G>Ap.Gly420Glu
Q481Lexon 11c.1442A>Tp.Gln481Leu