Varaico: Literature-Extracted Genetic Variants

BARD1

1,331 papers

RefSeq Summary

This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of ...

Pfam Domains

zf-RING_6aa 41–83UCSCzf-RING of BARD1-type protein

zf-RING_6aa 41–105UCSCzf-RING of BARD1-type protein

BRCTaa 116–189UCSCBRCA1 C Terminus (BRCT) domain

Ankaa 427–459UCSCAnkyrin repeat

Ankaa 460–492UCSCAnkyrin repeat

Ankaa 493–525UCSCAnkyrin repeat

Gene Aliases

HGNC Name

BRCA1 associated RING domain 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000465.4

p.L667L

c.2001G>C

Surrounding Variants

1 paper

NM_000465.4

p.L667P

c.2000T>C

4 papers

NM_000465.4

p.L667_L668Splc

c.2001+1G>T

2 papers

NM_000465.4

p.L667_L668Splc

c.2001+1G>C

2 papers

NM_000465.4

p.L667_L668Splc

c.2001+1G>A

3 papers

NM_000465.4

p.L667_L668Splc

c.2001+2T>C

1 paper

NM_000465.4

p.Q666_L667delFs

c.1998_2001del4

1 paper

NM_000465.4

p.L667_L668Splc

c.2001+3A>T

10 papers

NM_000465.4

p.Q666*

c.1996C>T

1 paper

NM_000465.4

p.Q666E

c.1996C>G

2 papers

NM_000465.4

p.E665D

c.1995A>T

1 paper

NM_000465.4

p.E665E

c.1995A>G

2 papers

NM_000465.4

p.E665D

c.1995A>C