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.T1122delFs

c.3365delG

Surrounding Variants

2 papers

NM_007294.4

p.T1122T

c.3366A>G

13 papers

NM_007294.4

p.D1123Y

c.3367G>T

7 papers

NM_007294.4

p.T1122delFs

c.3365_3366delTG

4 papers

NM_007294.4

p.T1122I

c.3365C>T

3 papers

NM_007294.4

p.D1123V

c.3368A>T

17 papers

NM_007294.4

p.V1120_N1121delFs

c.3359_3363del5

3 papers

NM_007294.4

p.N1121_D1123delFs

c.3363_3367del5

3 papers

NM_007294.4

p.T1122fs

c.3364_3365fs

3 papers

NM_007294.4

p.N1121fs

c.3361_3362fs

2 papers

NM_007294.4

p.N1121K

c.3363T>G

2 papers

NM_007294.4

p.N1121K

c.3363T>A

7 papers

NM_007294.4

p.N1121delFs

c.3362delT