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.S538delFs

c.1612delT

Surrounding Variants

1 paper

NM_000465.4

p.S538T

c.1613G>C

4 papers

NM_000465.4

p.S538N

c.1613G>A

2 papers

NM_000465.4

p.E537K

c.1609G>A

1 paper

NM_000465.4

p.D536V

c.1607A>T

2 papers

NM_000465.4

p.D536G

c.1607A>G

1 paper

NM_000465.4

p.K540T

c.1619A>C

1 paper

NM_000465.4

p.D536fs

c.1606_1607fs

2 papers

NM_000465.4

p.K540N

c.1620A>T

2 papers

NM_000465.4

p.K540N

c.1620A>C

1 paper

NM_000465.4

p.D535fs

c.1603_1604fs

1 paper

NM_000465.4

p.S541P

c.1621T>C

8 papers

NM_000465.4

p.M539_K540del2

c.1615_1619del6