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

6 papers

NM_000465.4

p.D500A

c.1499A>C

Surrounding Variants

1 paper

NM_000465.4

p.D500fs

c.1498_1499fs

3 papers

NM_000465.4

p.D500N

c.1498G>A

2 papers

NM_000465.4

p.L498I

c.1492C>A

1 paper

NM_000465.4

p.P497P

c.1491A>G

1 paper

NM_000465.4

p.P497L

c.1490C>T

2 papers

NM_000465.4

p.K503R

c.1508A>G

1 paper

NM_000465.4

p.K503T

c.1508A>C

1 paper

NM_000465.4

p.N504fs

c.1510_1511fs

2 papers

NM_000465.4

p.S496S

c.1488A>G

3 papers

NM_000465.4

p.K503delFs

c.1509delC

7 papers

NM_000465.4

p.S496*

c.1487C>G

3 papers

NM_000465.4

p.S496*

c.1487C>A