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

51 papers

NM_007294.4

p.W321*

c.963G>A

Surrounding Variants

2 papers

NM_007294.4

p.W321C

c.963G>T

3 papers

NM_007294.4

p.W321fs

c.961_962fs

2 papers

NM_007294.4

p.W321C

c.963G>C

2 papers

NM_007294.4

p.W321delFs

c.961_962delCA

7 papers

NM_007294.4

p.A322fs

c.964_965fs

1 paper

NM_007294.4

p.W321L

c.962G>T

2 papers

NM_007294.4

p.R320_W321insFs

c.958_961dup4

1 paper

NM_007294.4

p.W321insFs

c.962_963insA

19 papers

NM_007294.4

p.A322P

c.964G>C

1 paper

NM_007294.4

p.W321S

c.962G>C

60 papers

NM_007294.4

p.W321*

c.962G>A

11 papers

NM_007294.4

p.A322T

c.964G>A