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.R252delFs

c.755_756delAC

Surrounding Variants

3 papers

NM_007294.4

p.A253V

c.758C>T

2 papers

NM_007294.4

p.A253insFs

c.758_759insT

1 paper

NM_007294.4

p.A253E

c.758C>A

1 paper

NM_007294.4

p.T249_A253delFs

c.745_757del13

1 paper

NM_007294.4

p.A253insFs

c.757_758insA

8 papers

NM_007294.4

p.A253T

c.757G>A

1 paper

NM_007294.4

p.L246_R252delFs

c.736_755del20

1 paper

NM_007294.4

p.A253A

c.759A>T

2 papers

NM_007294.4

p.A253A

c.759A>G

1 paper

NM_007294.4

p.A253delFs

c.757_758delGC

8 papers

NM_007294.4

p.R252_A253delFs

c.755_758del4

1 paper

NM_007294.4

p.T249_A253del0

c.746_757del12