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.E851delFs

c.2551delC

Surrounding Variants

2 papers

NM_007294.4

p.E851G

c.2552A>G

6 papers

NM_007294.4

p.E851*

c.2551G>T

3 papers

NM_007294.4

p.E851K

c.2551G>A

1 paper

NM_007294.4

p.E851_L852insFs

c.2553_2554ins7

2 papers

NM_007294.4

p.E851fs

c.2551_2552fs

1 paper

NM_007294.4

p.E851_L852insFs

c.2553_2554ins10

1 paper

NM_007294.4

p.E851_L852insFs

c.2553_2554ins4

5 papers

NM_007294.4

p.E851fs

c.2551_2552fs

1 paper

NM_007294.4

p.S850_E851insFs

c.2550_2551insC

1 paper

NM_007294.4

p.S850R

c.2550T>G

1 paper

NM_007294.4

p.S850R

c.2550T>A

2 papers

NM_007294.4

p.L852V

c.2554C>G