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

12 papers

NM_007294.4

p.K1452delFs

c.4356delT

Surrounding Variants

1 paper

NM_007294.4

p.A1453S

c.4357G>T

2 papers

NM_007294.4

p.A1453insFs

c.4357_4358insT

2 papers

NM_007294.4

p.K1452_A1453insFs

c.4356_4357insA

31 papers

NM_007294.4

p.A1453Splc

c.4357+1G>T

11 papers

NM_007294.4

p.A1453Splc

c.4357+1G>C

56 papers

NM_007294.4

p.A1453Splc

c.4357+1G>A

1 paper

NM_007294.4

p.S1448_A1453delFs

c.4344_4357del14

3 papers

NM_007294.4

p.K1452N

c.4356A>T

3 papers

NM_007294.4

p.K1452N

c.4356A>C

1 paper

NM_007294.4

p.K1452fs

c.4354_4355fs

1 paper

NM_007294.4

p.A1453insFs

c.4357_4358insG

9 papers

NM_007294.4

p.A1453Splc

c.4357+2T>G