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.N824insFs

c.2471dupA

Surrounding Variants

2 papers

NM_007294.4

p.N824K

c.2472T>G

2 papers

NM_007294.4

p.N824K

c.2472T>A

12 papers

NM_007294.4

p.D825Y

c.2473G>T

1 paper

NM_007294.4

p.D825H

c.2473G>C

3 papers

NM_007294.4

p.D825N

c.2473G>A

2 papers

NM_007294.4

p.I815_N824del10

c.2443_2471del30

23 papers

NM_007294.4

p.D825fs

c.2473_2474fs

1 paper

NM_007294.4

p.N824I

c.2471A>T

1 paper

NM_007294.4

p.N824T

c.2471A>C

1 paper

NM_007294.4

p.N824insFs

c.2471_2472ins13

1 paper

NM_007294.4

p.N824insFs

c.2471_2472insG

3 papers

NM_007294.4

p.N824fs

c.2470_2471fs