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.S784fs

c.2350_2351fs

Surrounding Variants

1 paper

NM_007294.4

p.S784S

c.2352G>T

3 papers

NM_007294.4

p.S784S

c.2352G>A

7 papers

NM_007294.4

p.S784delFs

c.2350_2351delGA

33 papers

NM_007294.4

p.S784L

c.2351C>T

1 paper

NM_007294.4

p.S784*

c.2351C>A

1 paper

NM_007294.4

p.S784delFs

c.2350delA

1 paper

NM_007294.4

p.L785fs

c.2353_2354fs

17 papers

NM_007294.4

p.L785*

c.2354T>G

2 papers

NM_007294.4

p.S784A

c.2350T>G

1 paper

NM_007294.4

p.L785S

c.2354T>C

22 papers

NM_007294.4

p.L785*

c.2354T>A

1 paper

NM_007294.4

p.S782_I783del2

c.2344_2348del6