Varaico: Literature-Extracted Genetic Variants

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger

zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)

BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT

BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_007294.4

p.K467_K468delFs

c.1399_1402del4

Surrounding Variants

1 paper

NM_007294.4

p.K468_A469insFs

c.1404_1405insT

2 papers

NM_007294.4

p.K468fs

c.1402_1403fs

1 paper

NM_007294.4

p.K468K

c.1404G>A

3 papers

NM_007294.4

p.K468delFs

c.1403delT

1 paper

NM_007294.4

p.A469S

c.1405G>T

1 paper

NM_007294.4

p.A469_S470insT

c.1405_1409ins3

1 paper

NM_007294.4

p.A469P

c.1405G>C

7 papers

NM_007294.4

p.A469T

c.1405G>A

3 papers

NM_007294.4

p.T464_K468del5

c.1390_1403del15

2 papers

NM_007294.4

p.A469fs

c.1405_1406fs

1 paper

NM_007294.4

p.K467delFs

c.1400_1401delCT

2 papers

NM_007294.4

p.K468fs

c.1402_1403fs