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

3 papers

NM_007294.4

p.H476fs

c.1426_1427fs

Surrounding Variants

1 paper

NM_007294.4

p.S475_H476insFs

c.1425_1426insT

1 paper

NM_007294.4

p.S475delFs

c.1424delC

2 papers

NM_007294.4

p.H476L

c.1427A>T

26 papers

NM_007294.4

p.H476R

c.1427A>G

6 papers

NM_007294.4

p.H476delFs

c.1426delG

4 papers

NM_007294.4

p.S470_L474del5

c.1408_1421del15

1 paper

NM_007294.4

p.H476H

c.1428T>C

1 paper

NM_007294.4

p.S475I

c.1424G>T

2 papers

NM_007294.4

p.S475N

c.1424G>A

3 papers

NM_007294.4

p.V477I

c.1429G>A

2 papers

NM_007294.4

p.S475fs

c.1423_1424fs

8 papers

NM_007294.4

p.S475C

c.1423A>T