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.Y777insFs

c.2330dupA

Surrounding Variants

9 papers

NM_007294.4

p.Y777*

c.2331T>G

2 papers

NM_007294.4

p.Y777Y

c.2331T>C

8 papers

NM_007294.4

p.Y777*

c.2331T>A

2 papers

NM_007294.4

p.G778C

c.2332G>T

1 paper

NM_007294.4

p.G778S

c.2332G>A

2 papers

NM_007294.4

p.Y777F

c.2330A>T

2 papers

NM_007294.4

p.Y777C

c.2330A>G

3 papers

NM_007294.4

p.Y777delFs

c.2329delA

7 papers

NM_007294.4

p.Y777D

c.2329T>G

1 paper

NM_007294.4

p.Y777H

c.2329T>C

1 paper

NM_007294.4

p.T775_D776del2

c.2323_2327del6

1 paper

NM_007294.4

p.P773_D776del4

c.2317_2327del12