CARD14 (NM_024110.4) sequence variants
(CARMA2, BIMP2)

Editor(s): Francesca CAPON   

How to submit a novel simple allele ?   How to submit a novel complex allele ?

Total current number of sequence variants for CARD14 : 35

*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
R62Qexon 2c.185G>Ap.Arg62Gln
 2015-12-07
R69Wexon 2c.205C>Tp.Arg69Trp
 2015-12-07
R69Qexon 2c.206G>Ap.Arg69Gln
 2013-06-26
G117Sexon 3c.349G>Ap.Ser116_Gly117ins22
 2013-04-15
c.349+1G>Aintron 3c.349+1G>Ap.Ser116_Gly117ins22
 2013-04-15
c.349+5G>Aintron 3c.349+5G>Ap.Ser116_Gly117ins22
 2013-04-15
M119Vexon 4c.355A>Gp.Met119Val
 2014-08-01
L124Pexon 4c.371T>Cp.Leu124Pro
 2014-10-31
E138delexon 4c.412_414delGAGp.Glu138del
 2013-04-15
E138Aexon 4c.413A>Cp.Glu138Ala
 2013-04-15
L150Rexon 4c.449T>Gp.Leu150Arg
 2015-12-07
R151Wexon 4c.451C>Tp.Arg151Trp
 2015-12-07
R151Qexon 4c.452G>Ap.Arg151Gln
 2015-12-07
L156Pexon 4c.467T>Cp.Leu156Pro
 2013-04-15
R166Hexon 4c.497G>Ap.Arg166His
 2014-08-01
D176Hexon 4c.526G>Cp.Asp176His
 2014-02-05
E197Kexon 4c.589G>Ap.Glu197Lys
 2015-12-04
S200Nexon 4c.599G>Ap.Ser200Asn
 2013-06-26
L209Pexon 4c.626T>Cp.Leu209Pro
 2015-12-07
R218Cexon 4c.652C>Tp.Arg218Cys
 2015-12-07
M338Vexon 7c.1012A>Gp.Met338Val
 2015-12-07
L350Pexon 7c.1049T>Cp.Leu350Pro
 2015-12-07
c.1090-2A>Gintron 7c.1090-2A>G-
 2015-12-23
A364Vexon 8c.1091C>Tp.Ala364Val
 2015-12-04
T420Aexon 9c.1258A>Gp.Thr420Ala
 2015-12-07
R430Wexon 9c.1288C>Tp.Arg430Trp
 2017-08-07
c.1356+5G>Aintron 9c.1356+5G>A-
 2015-12-07
R547Sexon 12c.1641G>Cp.Arg547Ser
 2014-03-10
T591Mexon 13c.1772C>Tp.Thr591Met
 2014-08-01
S602Lexon 13c.1805C>Tp.Ser602Leu
 2015-12-07
A639Gexon 14c.1916C>Gp.Ala639Gly
 2015-12-07
c.2399-4A>Gintron 17c.2399-4A>G-
 2014-03-10
R820Wexon 18c.2458C>Tp.Arg820Trp
 2014-03-10
R826Wexon 18c.2476C>Tp.Arg826Trp
 2013-06-26
R883Hexon 19c.2648G>Ap.Arg883His
 2014-03-10