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.L514V

c.1540C>G

Surrounding Variants

1 paper

NM_000465.4

p.L514fs

c.1540_1541fs

1 paper

NM_000465.4

p.L513insFs

c.1539dupA

1 paper

NM_000465.4

p.L513*

c.1538T>G

2 papers

NM_000465.4

p.S515A

c.1543T>G

1 paper

NM_000465.4

p.S515fs

c.1543_1544fs

1 paper

NM_000465.4

p.L512delFs

c.1535delA

1 paper

NM_000465.4

p.S515F

c.1544C>T

1 paper

NM_000465.4

p.S515delFs

c.1543delA

1 paper

NM_000465.4

p.S515S

c.1545C>G

1 paper

NM_000465.4

p.Y516C

c.1547A>G

1 paper

NM_000465.4

p.I509_V510delFs

c.1527_1530del4

2 papers

NM_000465.4

p.G517R

c.1549G>C