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

2 papers

NM_000465.4

p.N549S

c.1646A>G

Surrounding Variants

1 paper

NM_000465.4

p.E550*

c.1648G>T

1 paper

NM_000465.4

p.S551L

c.1652C>T

24 papers

NM_000465.4

p.S551*

c.1652C>G

22 papers

NM_000465.4

p.S551*

c.1652C>A

1 paper

NM_000465.4

p.E547*

c.1639G>T

1 paper

NM_000465.4

p.P546Q

c.1637C>A

1 paper

NM_000465.4

p.S552delFs

c.1656delG

1 paper

NM_000465.4

p.L545L

c.1633C>T

1 paper

NM_000465.4

p.S555fs

c.1663_1664fs

1 paper

NM_000465.4

p.H556D

c.1666C>G

2 papers

NM_000465.4

p.A554_S555delFs

c.1662_1665del4

2 papers

NM_000465.4

p.S541_L542del1

c.1623_1625delAGC