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

116 papers

NM_007294.4

p.S1512I

c.4535G>T

Surrounding Variants

3 papers

NM_007294.4

p.S1512T

c.4535G>C

2 papers

NM_007294.4

p.S1512N

c.4535G>A

1 paper

NM_007294.4

p.S1512delFs

c.4534delT

6 papers

NM_007294.4

p.H1511_S1512delFs

c.4533_4534delTG

1 paper

NM_007294.4

p.M1510_H1511del2

c.4528_4532del6

1 paper

NM_007294.4

p.S1512R

c.4536T>G

1 paper

NM_007294.4

p.S1512R

c.4536T>A

2 papers

NM_007294.4

p.S1512delFs

c.4535delC

1 paper

NM_007294.4

p.S1512delFs

c.4534_4535delCT

1 paper

NM_007294.4

p.S1512fs

c.4534_4535fs

8 papers

NM_007294.4

p.S1512C

c.4534A>T

1 paper

NM_007294.4

p.S1512G

c.4534A>G