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.I692F

c.2074A>T

Surrounding Variants

6 papers

NM_000465.4

p.I692T

c.2075T>C

1 paper

NM_000465.4

p.I692M

c.2076T>G

1 paper

NM_000465.4

p.I692I

c.2076T>C

2 papers

NM_000465.4

p.L691F

c.2071C>T

1 paper

NM_000465.4

p.K693*

c.2077A>T

1 paper

NM_000465.4

p.N690K

c.2070C>G

1 paper

NM_000465.4

p.N690insFs

c.2069dupA

1 paper

NM_000465.4

p.N690K

c.2070C>A

1 paper

NM_000465.4

p.K693insFs

c.2078_2079ins5

1 paper

NM_000465.4

p.N690fs

c.2068_2069fs

1 paper

NM_000465.4

p.D689fs

c.2065_2066fs

1 paper

NM_000465.4

p.L694L

c.2082C>T