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.L283_Q284delins

c.848_850delinsAAG

Surrounding Variants

11 papers

NM_007294.4

p.Q284fs

c.850_851fs

29 papers

NM_007294.4

p.Q284*

c.850C>T

3 papers

NM_007294.4

p.Q284insFs

c.850_851ins7

1 paper

NM_007294.4

p.L283_Q284ins4

c.849_850ins12

2 papers

NM_007294.4

p.Q284K

c.850C>A

10 papers

NM_007294.4

p.Q284R

c.851A>G

1 paper

NM_007294.4

p.Q284P

c.851A>C

18 papers

NM_007294.4

p.S282_Q284insFs

c.844_850dup7

1 paper

NM_007294.4

p.L283fs

c.847_848fs

2 papers

NM_007294.4

p.Q284insFs

c.851_852ins7

1 paper

NM_007294.4

p.L283delFs

c.847delA

8 papers

NM_007294.4

p.L283*

c.848T>G