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

85 papers

NM_007294.4

p.E1161_S1164delFs

c.3481_3491del11

Surrounding Variants

1 paper

NM_007294.4

p.S1164fs

c.3490_3491fs

1 paper

NM_007294.4

p.S1164S

c.3492T>C

1 paper

NM_007294.4

p.F1165fs

c.3493_3494fs

1 paper

NM_007294.4

p.E1161_S1164del4

c.3481_3491del12

9 papers

NM_007294.4

p.S1164I

c.3491G>T

1 paper

NM_007294.4

p.S1164insFs

c.3491_3492insT

1 paper

NM_007294.4

p.S1164T

c.3491G>C

2 papers

NM_007294.4

p.F1165S

c.3494T>C

2 papers

NM_007294.4

p.S1164C

c.3490A>T

1 paper

NM_007294.4

p.S1164G

c.3490A>G

1 paper

NM_007294.4

p.T1163insFs

c.3488dupC

1 paper

NM_007294.4

p.F1165fs

c.3493_3494fs