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

2 papers

NM_007294.4

p.T617N

c.1850C>A

Surrounding Variants

1 paper

NM_007294.4

p.T617I

c.1850C>T

2 papers

NM_007294.4

p.T617S

c.1850C>G

1 paper

NM_007294.4

p.R613_T617del0

c.1838_1849del12

6 papers

NM_007294.4

p.T617A

c.1849A>G

1 paper

NM_007294.4

p.S616delFs

c.1847_1848delAG

32 papers

NM_007294.4

p.S616del1

c.1846_1847delAGA

6 papers

NM_007294.4

p.S616delFs

c.1847delG

1 paper

NM_007294.4

p.K614_S616delFs

c.1841_1847del7

1 paper

NM_007294.4

p.R618W

c.1852A>T

1 paper

NM_007294.4

p.R618G

c.1852A>G

1 paper

NM_007294.4

p.T617delFs

c.1851delG

2 papers

NM_007294.4

p.R618insFs

c.1853_1854insA