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

1 paper

NM_007294.4

p.L1285fs

c.3853_3854fs

Surrounding Variants

4 papers

NM_007294.4

p.L1285F

c.3853C>T

1 paper

NM_007294.4

p.L1285V

c.3853C>G

3 papers

NM_007294.4

p.H1284insFs

c.3851_3852dupAC

3 papers

NM_007294.4

p.H1284H

c.3852C>T

2 papers

NM_007294.4

p.H1284fs

c.3850_3851fs

2 papers

NM_007294.4

p.H1284delFs

c.3851delT

1 paper

NM_007294.4

p.H1284L

c.3851A>T

6 papers

NM_007294.4

p.H1284R

c.3851A>G

1 paper

NM_007294.4

p.H1284delFs

c.3850delG

16 papers

NM_007294.4

p.S1286fs

c.3856_3857fs

1 paper

NM_007294.4

p.H1284Y

c.3850C>T

1 paper

NM_007294.4

p.H1284_L1285insTT

c.3850_3854ins6