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

64 papers

NM_007294.4

p.R496H

c.1487G>A

Surrounding Variants

3 papers

NM_007294.4

p.R496L

c.1487G>T

60 papers

NM_007294.4

p.R496C

c.1486C>T

5 papers

NM_007294.4

p.R496S

c.1486C>A

1 paper

NM_007294.4

p.Q494_E495delFs

c.1481_1485del5

1 paper

NM_007294.4

p.P497S

c.1489C>T

1 paper

NM_007294.4

p.P497_L498insA

c.1489_1493ins3

2 papers

NM_007294.4

p.P497T

c.1489C>A

3 papers

NM_007294.4

p.R496delFs

c.1488delA

1 paper

NM_007294.4

p.I493_R496delFs

c.1478_1487del10

2 papers

NM_007294.4

p.P497L

c.1490C>T

3 papers

NM_007294.4

p.P497R

c.1490C>G

1 paper

NM_007294.4

p.P497H

c.1490C>A