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.A1616fs

c.4846_4847fs

Surrounding Variants

1 paper

NM_007294.4

p.P1614_A1615insFs

c.4842_4845dup4

1 paper

NM_007294.4

p.P1614_A1615del2

c.4840_4844del6

2 papers

NM_007294.4

p.A1615A

c.4845T>C

1 paper

NM_007294.4

p.A1615delFs

c.4843_4844delGC

2 papers

NM_007294.4

p.A1616V

c.4847C>T

2 papers

NM_007294.4

p.A1615_A1616delFs

c.4845_4846delCA

6 papers

NM_007294.4

p.A1616A

c.4848T>C

1 paper

NM_007294.4

p.A1615V

c.4844C>T

3 papers

NM_007294.4

p.A1615insFs

c.4843dupG

6 papers

NM_007294.4

p.A1615D

c.4844C>A

1 paper

NM_007294.4

p.A1615fs

c.4843_4844fs

20 papers

NM_007294.4

p.A1615T

c.4843G>A