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.V1378_S1379delFs

c.4133_4136del4

Surrounding Variants

1 paper

NM_007294.4

p.E1380*

c.4138G>T

2 papers

NM_007294.4

p.E1380insFs

c.4138_4139insTT

6 papers

NM_007294.4

p.E1380_D1381insT

c.4138_4142ins3

1 paper

NM_007294.4

p.E1380Q

c.4138G>C

2 papers

NM_007294.4

p.E1380K

c.4138G>A

1 paper

NM_007294.4

p.S1379delFs

c.4137delA

31 papers

NM_007294.4

p.S1379delFs

c.4136_4137delAG

1 paper

NM_007294.4

p.S1379del1

c.4135_4136delAGA

1 paper

NM_007294.4

p.E1380fs

c.4138_4139fs

7 papers

NM_007294.4

p.S1379fs

c.4135_4136fs

1 paper

NM_007294.4

p.E1380insFs

c.4138dupG

1 paper

NM_007294.4

p.S1379_E1380delFs

c.4137_4138delCA