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

5 papers

NM_007294.4

p.Q284H

c.852G>T

Surrounding Variants

3 papers

NM_007294.4

p.Q284fs

c.850_851fs

6 papers

NM_007294.4

p.Q284H

c.852G>C

3 papers

NM_007294.4

p.Q284delFs

c.851delT

3 papers

NM_007294.4

p.H285Y

c.853C>T

2 papers

NM_007294.4

p.H285D

c.853C>G

1 paper

NM_007294.4

p.H285N

c.853C>A

1 paper

NM_007294.4

p.Q284delFs

c.852delC

3 papers

NM_007294.4

p.Q284delFs

c.851_852delCT

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

2 papers

NM_007294.4

p.Q284insFs

c.851_852ins7