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.G774S

c.2320G>A

Surrounding Variants

1 paper

NM_007294.4

p.G774C

c.2320G>T

1 paper

NM_007294.4

p.P773delFs

c.2319delA

1 paper

NM_007294.4

p.V772_G774delFs

c.2316_2320del5

1 paper

NM_007294.4

p.G774G

c.2322T>A

4 papers

NM_007294.4

p.L771_P773delFs

c.2311_2317del7

4 papers

NM_007294.4

p.P773fs

c.2317_2318fs

1 paper

NM_007294.4

p.T775fs

c.2323_2324fs

1 paper

NM_007294.4

p.P773S

c.2317C>T

2 papers

NM_007294.4

p.T775S

c.2323A>T

2 papers

NM_007294.4

p.T775A

c.2323A>G

1 paper

NM_007294.4

p.T775P

c.2323A>C

1 paper

NM_007294.4

p.T775_D776insG

c.2323_2327ins3