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.S1294insFs

c.3880_3881insTT

Surrounding Variants

1 paper

NM_007294.4

p.S1294fs

c.3880_3881fs

6 papers

NM_007294.4

p.A1293_S1294insFs

c.3879_3880insT

1 paper

NM_007294.4

p.A1293_S1294insFs

c.3879_3880ins5

1 paper

NM_007294.4

p.A1293fs

c.3877_3878fs

1 paper

NM_007294.4

p.A1293A

c.3879T>A

5 papers

NM_007294.4

p.S1292_A1293delFs

c.3875_3878del4

3 papers

NM_007294.4

p.A1277_S1292del16

c.3829_3875del48

1 paper

NM_007294.4

p.S1294I

c.3881G>T

2 papers

NM_007294.4

p.S1294T

c.3881G>C

1 paper

NM_007294.4

p.A1293_S1294delFs

c.3879_3880delTA

8 papers

NM_007294.4

p.A1293V

c.3878C>T

1 paper

NM_007294.4

p.A1293G

c.3878C>G