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

53 papers

NM_007294.4

p.P981_P982del2

c.2941_2945del6

Surrounding Variants

2 papers

NM_007294.4

p.L983P

c.2948T>C

1 paper

NM_007294.4

p.L983delFs

c.2947delG

1 paper

NM_007294.4

p.L983V

c.2947C>G

1 paper

NM_007294.4

p.L983I

c.2947C>A

1 paper

NM_007294.4

p.F984insFs

c.2950_2951insG

2 papers

NM_007294.4

p.F984_P985insC

c.2950_2954ins3

1 paper

NM_007294.4

p.F984L

c.2950T>C

1 paper

NM_007294.4

p.P982P

c.2946A>T

3 papers

NM_007294.4

p.P982P

c.2946A>G

2 papers

NM_007294.4

p.P982Fs

c.2946delinsGGFs

4 papers

NM_007294.4

p.P982delFs

c.2945delG

1 paper

NM_007294.4

p.F984S

c.2951T>C