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

10 papers

NM_007294.4

p.P1010delFs

c.3029_3030delAG

Surrounding Variants

1 paper

NM_007294.4

p.E1011Q

c.3031G>C

9 papers

NM_007294.4

p.E1011K

c.3031G>A

1 paper

NM_007294.4

p.P1010delFs

c.3030delA

1 paper

NM_007294.4

p.E1011fs

c.3031_3032fs

2 papers

NM_007294.4

p.P1010fs

c.3028_3029fs

1 paper

NM_007294.4

p.P1010P

c.3030T>G

1 paper

NM_007294.4

p.P1010P

c.3030T>C

1 paper

NM_007294.4

p.E1011delFs

c.3031delC

3 papers

NM_007294.4

p.P1010L

c.3029C>T

1 paper

NM_007294.4

p.S1009delFs

c.3026_3027delTG

2 papers

NM_007294.4

p.E1011fs

c.3031_3032fs

4 papers

NM_007294.4

p.P1010fs

c.3028_3029fs