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.Q12L

c.35A>T

Surrounding Variants

13 papers

NM_007294.4

p.Q12R

c.35A>G

7 papers

NM_007294.4

p.Q12P

c.35A>C

2 papers

NM_007294.4

p.Q12insFs

c.35_36ins5

1 paper

NM_007294.4

p.Q12delFs

c.34delG

52 papers

NM_007294.4

p.Q12*

c.34C>T

8 papers

NM_007294.4

p.Q12E

c.34C>G

1 paper

NM_007294.4

p.Q12_N13insT

c.34_38ins3

2 papers

NM_007294.4

p.V11_Q12insFs

c.33_34insAT

9 papers

NM_007294.4

p.Q12K

c.34C>A

1 paper

NM_007294.4

p.V11delFs

c.33delT

1 paper

NM_007294.4

p.A5_V11del7

c.13_32del21

5 papers

NM_007294.4

p.Q12H

c.36A>T