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.P365del1

c.1093_1094delTGG

Surrounding Variants

1 paper

NM_000465.4

p.S367T

c.1099T>A

1 paper

NM_000465.4

p.L359_P366del0

c.1076_1096del21

1 paper

NM_000465.4

p.L359_P365ins2

c.1075_1095dup21

35 papers

NM_000465.4

p.L359_P365del0

c.1075_1095del21

8 papers

NM_000465.4

p.S367delFs

c.1100delG

1 paper

NM_000465.4

p.P365L

c.1094C>T

1 paper

NM_000465.4

p.C368Y

c.1103G>A

1 paper

NM_000465.4

p.I357_S364del8

c.1069_1091del24

2 papers

NM_000465.4

p.S364L

c.1091C>T

2 papers

NM_000465.4

p.S364T

c.1090T>A

3 papers

NM_000465.4

p.R370C

c.1108C>T

1 paper

NM_000465.4

p.S363T

c.1087T>A