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

31 papers

NM_007294.4

p.T843_E846del4

c.2527_2537del12

Surrounding Variants

1 paper

NM_007294.4

p.E846insFs

c.2538dupA

2 papers

NM_007294.4

p.M847delins

c.2540delinsG

1 paper

NM_007294.4

p.E846delFs

c.2537delT

3 papers

NM_007294.4

p.E846_M847Fs

c.2538_2540delinsGFs

1 paper

NM_007294.4

p.S840_E846del7

c.2518_2537del21

1 paper

NM_007294.4

p.M847I

c.2541G>T

1 paper

NM_007294.4

p.M847I

c.2541G>C

1 paper

NM_007294.4

p.M847I

c.2541G>A

2 papers

NM_007294.4

p.M847fs

c.2539_2540fs

2 papers

NM_007294.4

p.M847L

c.2539A>T

2 papers

NM_007294.4

p.M847V

c.2539A>G

1 paper

NM_007294.4

p.M847L

c.2539A>C