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

71 papers

NM_007294.4

p.S281_S282delFs

c.843_846del4

Surrounding Variants

2 papers

NM_007294.4

p.S282insFs

c.846dupA

2 papers

NM_007294.4

p.L283V

c.847T>G

1 paper

NM_007294.4

p.L283L

c.847T>C

1 paper

NM_007294.4

p.L283I

c.847T>A

1 paper

NM_007294.4

p.A280_S282delFs

c.840_846del7

8 papers

NM_007294.4

p.L283*

c.848T>G

1 paper

NM_007294.4

p.L283S

c.848T>C

8 papers

NM_007294.4

p.L283*

c.848T>A

1 paper

NM_007294.4

p.A280_L283delFs

c.838_847del10

1 paper

NM_007294.4

p.S282S

c.846A>T

8 papers

NM_007294.4

p.S282fs

c.844_845fs

1 paper

NM_007294.4

p.S282delFs

c.844_845delGA