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

2 papers

NM_007294.4

p.E1462_Y1463ins0

c.4386_4388dupATA

Surrounding Variants

1 paper

NM_007294.4

p.Y1463Y

c.4389C>T

27 papers

NM_007294.4

p.Y1463*

c.4389C>G

1 paper

NM_007294.4

p.Y1463fs

c.4387_4388fs

1 paper

NM_007294.4

p.S1461_Y1463insFs

c.4382_4388dup7

1 paper

NM_007294.4

p.Y1463ins1

c.4388_4389insATA

31 papers

NM_007294.4

p.Y1463*

c.4389C>A

12 papers

NM_007294.4

p.P1464fs

c.4390_4391fs

1 paper

NM_007294.4

p.P1464S

c.4390C>T

3 papers

NM_007294.4

p.P1464A

c.4390C>G

3 papers

NM_007294.4

p.P1464_I1465insA

c.4390_4394ins3

1 paper

NM_007294.4

p.P1464T

c.4390C>A

2 papers

NM_007294.4

p.Q1458_Y1463delFs

c.4373_4389del17