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. 2017 Mar 31;8(22):36319–36330. doi: 10.18632/oncotarget.16751

Table 1. Somatic mutations in the components of MAP kinase, Wnt/β-catenin and NF-κB Signaling pathways in GBCs.

Genes Mutation types Allele change Amino acid change Case No. Pathways
ADAM12 Nonsynonymous Exon16:
c.1619-7G > C
Splicing T7 MAP kinase
KRAS Nonsynonymous Exon3:
c.183A > T
p.Q61H T16 MAP kinase
MAPKBP1 Nonsynonymous Exon30:
c.3722C > T
p.P1241L T9 MAP kinase
Nonsynonymous Exon29:
c.3704C > T
p.P1235L T9 MAP kinase
MAX Nonsynonymous Exon3:
c.202A > G
p.K68E T36 MAP kinase
Nonsynonymous Exon4:
c.229A > G
p.K77E T36 MAP kinase
NF1 Nonsynonymous Exon14:
c.1641+1G >A
Splicing T4,16,17 MAP kinase
Nonsynonymous Exon52:
c.7676-2A>T
Splicing T4,16,17 MAP kinase
Nonsynonymous Exon53:
c.7739-2A>T
Splicing T4,16,17 MAP kinase
Nonsynonymous Exon15:
c.1645C > G
p.L549V T4,16,17 MAP kinase
PDGFRA Nonsynonymous Exon17:
c.2381A > G
p.D794G T7 MAP kinase
RRAD Nonsynonymous Exon4:
c.371-8C > T
Splicing T30 MAP kinase
APC Frameshift deletion Exon16:
c.4385_4388del
p.1462_1463del T14 Wnt/β-catenin
Frameshift deletion Exon14:
c.4331_4334del
p.1444_1445del T14 Wnt/β-catenin
Frameshift deletion Exon17:
c.4385_4388del
p.1462_1463del T14 Wnt/β-catenin
CCND1 Nonsynonymous Exon4:
c.718G > A
p.D240N T9 Wnt/β-catenin
CTNNA1 Stopgain SNV Exon3:
c.265G > T
p.E89X T9 Wnt/β-catenin
CTNNB1 Nonsynonymous Exon3:
c.134C > T
p.S45F T16,17 Wnt/β-catenin
CARD10 Nonsynonymous Exon20:
c.3077G > A
p.C1026Y T7 NF-κB
CARD11 Nonsynonymous Exon25:
c.3260+3A>G
Splicing T9 NF-κB
IRAK2 Nonsynonymous Exon12:
c.1511G > A
p.R504Q T9 NF-κB
PDCD11 Nonsynonymous Exon18:
c.2524G > A
p.E842K T16 NF-κB
RELA Stopgain SNV Exon3:
c.115G > T
p.E39X T14 NF-κB