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.K503E

c.1507A>G

Surrounding Variants

1 paper

NM_007294.4

p.K503fs

c.1507_1508fs

6 papers

NM_007294.4

p.K503*

c.1507A>T

2 papers

NM_007294.4

p.K503Q

c.1507A>C

1 paper

NM_007294.4

p.L502F

c.1506A>T

14 papers

NM_007294.4

p.K503R

c.1508A>G

2 papers

NM_007294.4

p.L502L

c.1506A>G

23 papers

NM_007294.4

p.L502fs

c.1504_1505fs

2 papers

NM_007294.4

p.K503insFs

c.1507_1508ins10

3 papers

NM_007294.4

p.L502delFs

c.1505delA

1 paper

NM_007294.4

p.L502delFs

c.1504_1505delAA

1 paper

NM_007294.4

p.K503delins

c.1507_1508delinsGC

14 papers

NM_007294.4

p.L502_K503delFs

c.1504_1507del4