Project HERA

KEAP1 variants

Every KEAP1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

7 variants

KEAP1 variants

Newest first. Each row opens the full report, criterion by criterion.

7 shown

Variant

Protein change

Classification

KEAP1 NM_012289.4:c.1639G>A

NP_036421.2:p.(V547I)

KEAP1 NM_012289.4:c.340G>A

NP_036421.2:p.(G114R)

KEAP1 NM_012289.4:c.1222C>A

NP_036421.2:p.(P408T)

KEAP1 NM_012289.4:c.887G>A

NP_036421.2:p.(R296H)

KEAP1 NM_012289.4:c.44G>A

NP_036421.2:p.(R15Q)

KEAP1 NM_012289.4:c.445G>A

NP_036421.2:p.(E149K)

KEAP1 NM_012289.4:c.542_543insT

NP_036421.2:p.(S182Qfs*11)