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

12 papers

NM_007294.4

p.A524V

c.1571C>T

Surrounding Variants

3 papers

NM_007294.4

p.A524G

c.1571C>G

5 papers

NM_007294.4

p.A524delFs

c.1570delC

1 paper

NM_007294.4

p.A524S

c.1570G>T

3 papers

NM_007294.4

p.A524T

c.1570G>A

1 paper

NM_007294.4

p.L523delFs

c.1568_1569delCA

1 paper

NM_007294.4

p.A524_V525insFs

c.1572_1573insCC

2 papers

NM_007294.4

p.A524fs

c.1570_1571fs

3 papers

NM_007294.4

p.A524fs

c.1570_1571fs

2 papers

NM_007294.4

p.L523F

c.1569G>T

1 paper

NM_007294.4

p.V525F

c.1573G>T

1 paper

NM_007294.4

p.L523fs

c.1567_1568fs

2 papers

NM_007294.4

p.V525_Q526insC

c.1573_1577ins3