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

45 papers

NM_007294.4

p.K519delFs

c.1556delT

Surrounding Variants

2 papers

NM_007294.4

p.K519N

c.1557G>T

11 papers

NM_007294.4

p.K519fs

c.1555_1556fs

1 paper

NM_007294.4

p.K519insFs

c.1555_1556insA

2 papers

NM_007294.4

p.K519N

c.1557G>C

1 paper

NM_007294.4

p.K519K

c.1557G>A

1 paper

NM_007294.4

p.K519M

c.1556A>T

1 paper

NM_007294.4

p.K519delFs

c.1557delC

16 papers

NM_007294.4

p.K519fs

c.1555_1556fs

6 papers

NM_007294.4

p.K519E

c.1555A>G

4 papers

NM_007294.4

p.K519Q

c.1555A>C

1 paper

NM_007297.4

p.F470_I471del2

c.1408_1412del6

1 paper

NM_007294.4

p.K519_K520delFs

c.1557_1558delTC