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

13 papers

NM_007294.4

p.L63S

c.188T>C

Surrounding Variants

5 papers

NM_007294.4

p.L63insFs

c.188_189insAG

120 papers

NM_007294.4

p.L63*

c.188T>G

144 papers

NM_007294.4

p.L63*

c.188T>A

1 paper

NM_007294.4

p.L63insFs

c.187_188insC

3 papers

NM_007294.4

p.L63insFs

c.187_188insA

4 papers

NM_007294.4

p.L63V

c.187T>G

3 papers

NM_007294.4

p.L63L

c.187T>C

6 papers

NM_007294.4

p.L63I

c.187T>A

2 papers

NM_007294.4

p.P62delFs

c.185_186delAG

31 papers

NM_007294.4

p.L63F

c.189A>T

1 paper

NM_007294.4

p.L63L

c.189A>G

27 papers

NM_007294.4

p.L63F

c.189A>C