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.S146delFs

c.436delA

Surrounding Variants

2 papers

NM_007294.4

p.S146F

c.437C>T

1 paper

NM_007294.4

p.S146Y

c.437C>A

1 paper

NM_007294.4

p.N144_S146delFs

c.432_436del5

1 paper

NM_007294.4

p.S146A

c.436T>G

1 paper

NM_007294.4

p.S146P

c.436T>C

2 papers

NM_007294.4

p.S146fs

c.436_437fs

1 paper

NM_007294.4

p.P142_S146delFs

c.426_436del11

1 paper

NM_007294.4

p.P145fs

c.433_434fs

1 paper

NM_007294.4

p.L147_Q148insCA

c.439_443ins6

1 paper

NM_007294.4

p.L147insFs

c.439_440ins10

2 papers

NM_007294.4

p.P145P

c.435T>G

1 paper

NM_007294.4

p.L147V

c.439T>G