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.S198Splc

c.593+90T>C

Surrounding Variants

1 paper

NM_007294.4

p.S198Splc

c.593+95C>A

1 paper

NM_007294.4

p.S198Splc

c.593+82A>G

1 paper

NM_007294.4

p.S198Splc

c.593+81T>A

1 paper

NM_007294.4

p.S198Splc

c.593+72C>A

1 paper

NM_007294.4

p.S198Splc

c.593+112G>A

1 paper

NM_007294.4

p.S198Splc

c.593+68G>A

1 paper

NM_007294.4

p.S198Splc

c.593+56T>C

1 paper

NM_007294.4

p.S198Splc

c.593+55A>G

1 paper

NM_007294.4

p.S198Splc

c.593+44A>G

1 paper

NM_007294.4

p.S198Splc

c.593+37T>C

1 paper

NM_007294.4

p.S198Splc

c.593+27G>A

1 paper

NM_007294.4

p.S198Splc

c.593+25A>T