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

7 papers

NM_007294.4

p.S1450*

c.4349C>G

Surrounding Variants

1 paper

NM_007294.4

p.S1450L

c.4349C>T

1 paper

NM_007294.4

p.S1450insFs

c.4348dupT

7 papers

NM_007294.4

p.S1450*

c.4349C>A

2 papers

NM_007294.4

p.S1450delFs

c.4348delA

1 paper

NM_007294.4

p.T1449delFs

c.4347delT

1 paper

NM_007294.4

p.S1450S

c.4350A>G

1 paper

NM_007294.4

p.S1450S

c.4350A>C

2 papers

NM_007294.4

p.S1450fs

c.4348_4349fs

4 papers

NM_007294.4

p.E1451K

c.4351G>A

11 papers

NM_007294.4

p.T1449T

c.4347A>G

1 paper

NM_007294.4

p.T1449fs

c.4345_4346fs

5 papers

NM_007294.4

p.E1451G

c.4352A>G