B-CPAP

Other names: BCPAP

Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
EPHB3 ENSG00000182580 ENST00000330394 p.E495K c.1483G>A Missense_Mutation -
CXXC1 ENSG00000154832 ENST00000285106 p.E271K c.811G>A Missense_Mutation -
MIER3 ENSG00000155545 ENST00000381199 p.T367M c.1100C>T Missense_Mutation -
BTN2A2 ENSG00000124508 ENST00000356709 p.L486L c.1458A>G Silent -
ANAPC4 ENSG00000053900 ENST00000315368 p.R419W c.1255C>T Missense_Mutation -
RARB ENSG00000077092 ENST00000404969 p.I33I c.99C>T Silent -
KRTAP1-1 ENSG00000188581 ENST00000306271 p.P131P c.393C>A Silent -
-- ENSG00000167411 ENST00000300870 p.S142F c.425C>T Missense_Mutation -
CACNA1B ENSG00000148408 ENST00000371372 p.G31G c.93C>G Silent -
-- ENST00000447511 p.G437G c.1311C>A Silent -