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.P508A

c.1522C>G

Surrounding Variants

3 papers

NM_007294.4

p.P508fs

c.1522_1523fs

1 paper

NM_007294.4

p.P508T

c.1522C>A

5 papers

NM_007294.4

p.R506_R507delFs

c.1516_1520del5

2 papers

NM_007294.4

p.P508L

c.1523C>T

1 paper

NM_007294.4

p.R507R

c.1521A>G

2 papers

NM_007294.4

p.R507fs

c.1519_1520fs

1 paper

NM_007294.4

p.P508P

c.1524T>G

2 papers

NM_007294.4

p.P508P

c.1524T>C

1 paper

NM_007294.4

p.P508P

c.1524T>A

5 papers

NM_007294.4

p.P508delFs

c.1523delG

10 papers

NM_007294.4

p.R507I

c.1520G>T

1 paper

NM_007294.4

p.R507insFs

c.1519dupA