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

48 papers

NM_007294.4

p.S1503*

c.4508C>A

NM_007300.4

p.S1524*

c.4571C>A

Surrounding Variants

2 papers

NM_007294.4

p.S1503L

c.4508C>T

31 papers

NM_007294.4

p.S1503*

c.4508C>G

NM_007300.4

p.S1524*

c.4571C>G

1 paper

NM_007294.4

p.S1503delFs

c.4507delA

2 papers

NM_007294.4

p.S1503P

c.4507T>C

2 papers

NM_007294.4

p.S1503T

c.4507T>A

3 papers

NM_007294.4

p.S1503delFs

c.4508delG

2 papers

NM_007294.4

p.S1503fs

c.4507_4508fs

1 paper

NM_007294.4

p.L1504V

c.4510T>G

1 paper

NM_007294.4

p.P1502P

c.4506A>T

1 paper

NM_007294.4

p.P1502_S1503insFs

c.4506_4507insC

3 papers

NM_007294.4

p.P1502delFs

c.4505delG

2 papers

NM_007294.4

p.L1504*

c.4511T>G