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

1 paper

NM_007294.4

p.S470R

c.1408A>C

Surrounding Variants

2 papers

NM_007294.4

p.S470insFs

c.1408_1409insG

2 papers

NM_007294.4

p.S470insFs

c.1409_1410insT

2 papers

NM_007294.4

p.S470insFs

c.1408dupA

2 papers

NM_007294.4

p.S470N

c.1409G>A

1 paper

NM_007294.4

p.S470delFs

c.1408delT

2 papers

NM_007294.4

p.A469_S470delFs

c.1407_1408delTT

1 paper

NM_007294.4

p.K467_S470delFs

c.1399_1408del10

1 paper

NM_007294.4

p.K459_S470delFs

c.1377_1408del32

1 paper

NM_007294.4

p.A469A

c.1407A>T

1 paper

NM_007294.4

p.A469V

c.1406C>T

2 papers

NM_007294.4

p.A469G

c.1406C>G

1 paper

NM_007294.4

p.S470R

c.1410C>G