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

1 paper

NM_000465.4

p.L773F

c.2317C>T

Surrounding Variants

1 paper

NM_000465.4

p.L772W

c.2315T>G

1 paper

NM_000465.4

p.P774L

c.2321C>T

1 paper

NM_000465.4

p.L775fs

c.2323_2324fs

1 paper

NM_000465.4

p.E771Q

c.2311G>C

1 paper

NM_000465.4

p.L775V

c.2323C>G

1 paper

NM_000465.4

p.L775insFs

c.2324_2325ins8

1 paper

NM_000465.4

p.L775delFs

c.2324_2325delAA

1 paper

NM_000465.4

p.S769F

c.2306C>T

1 paper

NM_000465.4

p.E771_L775del5

c.2311_2324del15

1 paper

NM_000465.4

p.M768I

c.2304G>T

1 paper

NM_000465.4

p.M768insFs

c.2303dupT

1 paper

NM_000465.4

p.M768I

c.2304G>C