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.Y1429_P1430delFs

c.4286_4290del5

Surrounding Variants

6 papers

NM_007294.4

p.S1431P

c.4291T>C

4 papers

NM_007294.4

p.S1431fs

c.4291_4292fs

6 papers

NM_007294.4

p.P1430insFs

c.4289dupC

1 paper

NM_007294.4

p.P1430fs

c.4288_4289fs

2 papers

NM_007294.4

p.P1430delFs

c.4289delG

2 papers

NM_007294.4

p.S1431F

c.4292C>T

8 papers

NM_007294.4

p.P1430L

c.4289C>T

1 paper

NM_007294.4

p.S1431fs

c.4291_4292fs

1 paper

NM_007294.4

p.S1431S

c.4293C>A

1 paper

NM_007294.4

p.P1430H

c.4289C>A

1 paper

NM_007294.4

p.P1430fs

c.4288_4289fs

9 papers

NM_007294.4

p.P1430S

c.4288C>T