Gene Detail

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Gene Symbol BARD1
Synonyms
Gene Description BARD1, BRCA1 associated RING domain 1, forms a heterodimer with Brca1, which functions as an E3 ubiquitin ligase and mediator of DNA repair through homology-directed repair (HDR) (PMID: 8944023, PMID: 30925164) and centrosome regulation (PMID: 29858377). Germline mutations in BARD1 are associated with increased susceptibility to breast and ovarian cancers (PMID: 21344236), somatic mutations are highest in colon and endometrial cancers (PMID: 27283171) and BARD1 has also been implicated in neuroblastoma (PMID: 32047556).

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Molecular Profile Protein Effect Treatment Approaches
BARD1 A168T unknown
BARD1 A198V unknown
BARD1 A40V unknown
BARD1 A435V no effect - predicted
BARD1 A460T loss of function Olaparib
BARD1 A518V unknown
BARD1 A638T unknown
BARD1 A721T unknown
BARD1 A724T unknown
BARD1 A724V unknown
BARD1 amp no effect
BARD1 C469R unknown
BARD1 C53W loss of function Olaparib
BARD1 C557S unknown
BARD1 C62S no effect - predicted
BARD1 C645R loss of function Olaparib
BARD1 C71Y loss of function Olaparib
BARD1 C74Y unknown
BARD1 C78S no effect - predicted
BARD1 C83R loss of function Olaparib
BARD1 D135N loss of function
BARD1 D190N no effect - predicted
BARD1 D190Y no effect - predicted
BARD1 D230E no effect - predicted
BARD1 D612fs loss of function - predicted Olaparib
BARD1 D612V no effect - predicted
BARD1 del loss of function Olaparib
BARD1 E223G no effect - predicted
BARD1 E27Q unknown
BARD1 E287* loss of function - predicted Olaparib
BARD1 E355K unknown
BARD1 E361D no effect - predicted
BARD1 E652fs loss of function - predicted Olaparib
BARD1 E67K no effect - predicted
BARD1 F677L unknown
BARD1 G203* loss of function - predicted
BARD1 G32V unknown
BARD1 G451fs loss of function - predicted Olaparib
BARD1 G574D unknown
BARD1 G576V unknown
BARD1 G623E loss of function Olaparib
BARD1 G656R unknown
BARD1 G681fs loss of function - predicted Olaparib
BARD1 G698D loss of function - predicted Olaparib
BARD1 G700Afs*14 loss of function - predicted Olaparib
BARD1 G753D loss of function Olaparib
BARD1 H116Y unknown
BARD1 H483R unknown
BARD1 H506R unknown
BARD1 H556D unknown
BARD1 H606D unknown
BARD1 H686A unknown
BARD1 I214M unknown
BARD1 I249V no effect - predicted
BARD1 I258T no effect - predicted
BARD1 I434F unknown
BARD1 I441M unknown
BARD1 I692T unknown
BARD1 I69M no effect - predicted
BARD1 I738V no effect
BARD1 inact mut loss of function Olaparib
BARD1 K140N unknown
BARD1 K160R unknown
BARD1 K209Efs*5 loss of function - predicted Olaparib
BARD1 K312N loss of function Olaparib
BARD1 K321Nfs*21 loss of function - predicted Olaparib
BARD1 K540N unknown
BARD1 K757M unknown
BARD1 L239Q no effect - predicted
BARD1 L239R unknown
BARD1 L359_P365del unknown
BARD1 L447C no effect - predicted
BARD1 L447F unknown
BARD1 L44R loss of function Olaparib
BARD1 L465F loss of function - predicted Olaparib
BARD1 L480S loss of function - predicted Olaparib
BARD1 L585I unknown
BARD1 L625I unknown
BARD1 loss loss of function Olaparib
BARD1 M104I no effect - predicted
BARD1 M621I unknown
BARD1 mutant unknown
BARD1 N118S no effect - predicted
BARD1 N295S loss of function Olaparib
BARD1 N326D no effect - predicted
BARD1 N326S no effect - predicted
BARD1 N356I unknown
BARD1 N450H no effect - predicted
BARD1 N488S unknown
BARD1 N626S unknown
BARD1 N744D unknown
BARD1 N98S no effect - predicted
BARD1 P24fs loss of function - predicted
BARD1 P24S no effect
BARD1 P24_A25insGTSLVPP unknown
BARD1 P281S unknown
BARD1 P411H unknown
BARD1 P530L loss of function - predicted Olaparib
BARD1 P707S loss of function Olaparib
BARD1 P84S unknown
BARD1 Q164* loss of function - predicted Olaparib
BARD1 Q237E unknown
BARD1 Q493E unknown
BARD1 Q564* loss of function - predicted Olaparib
BARD1 Q564H loss of function Olaparib
BARD1 Q730* loss of function - predicted Olaparib
BARD1 R112Q unknown
BARD1 R150Q unknown
BARD1 R194K no effect - predicted
BARD1 R21C unknown
BARD1 R21L unknown
BARD1 R322H no effect - predicted
BARD1 R378S no effect - predicted
BARD1 R406* loss of function - predicted Olaparib
BARD1 R406G unknown
BARD1 R406Q unknown
BARD1 R529Q unknown
BARD1 R565C loss of function - predicted Olaparib
BARD1 R565H unknown
BARD1 R641Q unknown
BARD1 R642G unknown
BARD1 R658C unknown
BARD1 R658S unknown
BARD1 R664T unknown
BARD1 R731C unknown
BARD1 R731G unknown
BARD1 R731H unknown
BARD1 S103N no effect - predicted
BARD1 S109R no effect - predicted
BARD1 S142* loss of function - predicted Olaparib
BARD1 S151N no effect - predicted
BARD1 S174I unknown
BARD1 S186N unknown
BARD1 S241C no effect - predicted
BARD1 S279P unknown
BARD1 S339N unknown
BARD1 S339T unknown
BARD1 S342N unknown
BARD1 S389C unknown
BARD1 S389R unknown
BARD1 S551* loss of function - predicted Olaparib
BARD1 S558P unknown
BARD1 S575A unknown
BARD1 S575N unknown
BARD1 S602I unknown
BARD1 S616N no effect - predicted
BARD1 S660R loss of function - predicted Olaparib
BARD1 S704I unknown
BARD1 S761N unknown
BARD1 T267I unknown
BARD1 T343I unknown
BARD1 T351M unknown
BARD1 T54A unknown
BARD1 T598I loss of function - predicted Olaparib
BARD1 T617A unknown
BARD1 T716N unknown
BARD1 T719A unknown
BARD1 V154fs loss of function Olaparib
BARD1 V163M unknown
BARD1 V183L unknown
BARD1 V507A no effect - predicted
BARD1 V507M no effect - predicted
BARD1 V510A unknown
BARD1 V523A unknown
BARD1 V523I unknown
BARD1 V695I unknown
BARD1 V695L unknown
BARD1 V713M unknown
BARD1 V767fs loss of function Olaparib
BARD1 V85L no effect - predicted
BARD1 W146C unknown
BARD1 W34R loss of function - predicted Olaparib
BARD1 wild-type no effect
BARD1 Y533F unknown