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

31 papers

NM_007294.4

p.L63F

c.189A>T

Surrounding Variants

1 paper

NM_007294.4

p.L63L

c.189A>G

27 papers

NM_007294.4

p.L63F

c.189A>C

1 paper

NM_007297.4

p.P15insFs

c.45dupT

1 paper

NM_007294.4

p.L63_C64insFs

c.189_190ins10

8 papers

NM_007294.4

p.L63_C64insFs

c.189_190ins4

2 papers

NM_007294.4

p.L63delFs

c.187delA

3 papers

NM_007294.4

p.L63delFs

c.187_188delAA

1 paper

NM_007294.4

p.G57_L63del0

c.171_188del18

5 papers

NM_007294.4

p.L63insFs

c.188_189insAG

1 paper

NM_007294.4

p.C64insFs

c.190_191ins19

6 papers

NM_007294.4

p.L63insFs

c.189dupA

120 papers

NM_007294.4

p.L63*

c.188T>G