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

1 paper

NM_007294.4

p.T478_L481insFs

c.1432_1441dup10

Surrounding Variants

1 paper

NM_007294.4

p.L481R

c.1442T>G

1 paper

NM_007294.4

p.L481P

c.1442T>C

2 papers

NM_007294.4

p.L481L

c.1441C>T

7 papers

NM_007294.4

p.L481V

c.1441C>G

1 paper

NM_007294.4

p.L481I

c.1441C>A

3 papers

NM_007294.4

p.L481_I482insFs

c.1443_1444insT

2 papers

NM_007294.4

p.L481fs

c.1441_1442fs

1 paper

NM_007294.4

p.L481fs

c.1441_1442fs

1 paper

NM_007294.4

p.P472_L481delFs

c.1415_1442del28

1 paper

NM_007294.4

p.N480fs

c.1438_1439fs

7 papers

NM_007294.4

p.N480insFs

c.1439dupA

2 papers

NM_007294.4

p.N480N

c.1440T>C