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.R5W

c.13C>T

Surrounding Variants

1 paper

NM_000465.4

p.N4insFs

c.11dupA

1 paper

NM_000465.4

p.N4K

c.12T>A

1 paper

NM_000465.4

p.D3_R5delFs

c.9_13del5

1 paper

NM_000465.4

p.Q6*

c.16C>T

1 paper

NM_000465.4

p.R5delFs

c.15delC

1 paper

NM_000465.4

p.N4_R5insC

c.10_14ins3

1 paper

NM_000465.4

p.P2_D3ins9

c.6_7ins27

2 papers

NM_000465.4

p.P2_D3delins

c.6_7delinsCC

1 paper

NM_000465.4

p.P7A

c.19C>G

2 papers

NM_000465.4

p.P2insFs

c.4_5insC

1 paper

NM_000465.4

p.P2fs

c.4_5fs

1 paper

NM_000465.4

p.P2P

c.6G>A