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.V477delFs

c.1429delC

Surrounding Variants

3 papers

NM_007294.4

p.V477A

c.1430T>C

3 papers

NM_007294.4

p.V477I

c.1429G>A

1 paper

NM_007294.4

p.V477fs

c.1429_1430fs

1 paper

NM_007294.4

p.V477delFs

c.1430delA

1 paper

NM_007294.4

p.H476H

c.1428T>C

2 papers

NM_007294.4

p.T478fs

c.1432_1433fs

3 papers

NM_007294.4

p.T478A

c.1432A>G

1 paper

NM_007294.4

p.H476_V477delFs

c.1428_1431del4

3 papers

NM_007294.4

p.T478I

c.1433C>T

2 papers

NM_007294.4

p.T478N

c.1433C>A

1 paper

NM_007294.4

p.S470_V477del8

c.1408_1430del24

2 papers

NM_007294.4

p.H476L

c.1427A>T