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.E361insFs

c.1083dupA

Surrounding Variants

3 papers

NM_000465.4

p.C362G

c.1084T>G

1 paper

NM_000465.4

p.E361D

c.1083A>T

1 paper

NM_000465.4

p.E361D

c.1083A>C

1 paper

NM_000465.4

p.C362C

c.1086T>C

1 paper

NM_000465.4

p.S363T

c.1087T>A

2 papers

NM_000465.4

p.S364T

c.1090T>A

2 papers

NM_000465.4

p.L359F

c.1077G>T

1 paper

NM_000465.4

p.L359fs

c.1075_1076fs

14 papers

NM_000465.4

p.L359F

c.1077G>C

2 papers

NM_000465.4

p.S364L

c.1091C>T

1 paper

NM_000465.4

p.L359S

c.1076T>C

1 paper

NM_000465.4

p.L359L

c.1075T>C