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

4 papers

NM_007294.4

p.D1546E

c.4638T>G

Surrounding Variants

5 papers

NM_007294.4

p.D1546E

c.4638T>A

2 papers

NM_007294.4

p.L1547V

c.4639T>G

2 papers

NM_007294.4

p.L1547M

c.4639T>A

1 paper

NM_007294.4

p.H1545_D1546del2

c.4633_4637del6

27 papers

NM_007294.4

p.D1546Y

c.4636G>T

5 papers

NM_007294.4

p.D1546H

c.4636G>C

48 papers

NM_007294.4

p.D1546N

c.4636G>A

NM_007297.4

p.D1499N

c.4495G>A

NM_007299.4

p.D442N

c.1324G>A

1 paper

NM_007294.4

p.H1545delFs

c.4635delG

3 papers

NM_007294.4

p.L1547F

c.4641G>T

2 papers

NM_007294.4

p.D1546insFs

c.4638dupT

3 papers

NM_007294.4

p.L1547F

c.4641G>C

3 papers

NM_007294.4

p.D1546delFs

c.4638delA