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

9 papers

NM_007294.4

p.S510*

c.1529C>A

Surrounding Variants

2 papers

NM_007294.4

p.S510L

c.1529C>T

10 papers

NM_007294.4

p.S510*

c.1529C>G

2 papers

NM_007294.4

p.T509_S510insFs

c.1527_1528insA

1 paper

NM_007294.4

p.T509delFs

c.1527delT

2 papers

NM_007294.4

p.T509delFs

c.1525_1526delGT

1 paper

NM_007294.4

p.S510S

c.1530A>T

2 papers

NM_007294.4

p.S510fs

c.1528_1529fs

1 paper

NM_007294.4

p.S510fs

c.1528_1529fs

1 paper

NM_007294.4

p.S510delFs

c.1528_1529delGA

1 paper

NM_007294.4

p.G511insFs

c.1531_1532ins4

1 paper

NM_007294.4

p.G511S

c.1531G>A

5 papers

NM_007294.4

p.S510delFs

c.1530delT