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.A1584fs

c.4750_4751fs

Surrounding Variants

15 papers

NM_007294.4

p.A1584S

c.4750G>T

1 paper

NM_007294.4

p.A1584_P1585insA

c.4750_4754ins3

1 paper

NM_007294.4

p.R1583del1

c.4747_4749delTCT

1 paper

NM_007294.4

p.D1582_R1583delFs

c.4744_4747del4

3 papers

NM_007294.4

p.A1584V

c.4751C>T

2 papers

NM_007294.4

p.A1584delFs

c.4750delC

5 papers

NM_007294.4

p.R1583_A1584delFs

c.4749_4750delCT

1 paper

NM_007294.4

p.R1583fs

c.4747_4748fs

1 paper

NM_007294.4

p.R1583T

c.4748G>C

7 papers

NM_007294.4

p.R1583K

c.4748G>A

2 papers

NM_007294.4

p.A1584A

c.4752C>T

5 papers

NM_007294.4

p.A1584A

c.4752C>G