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.S1587fs

c.4759_4760fs

Surrounding Variants

1 paper

NM_007294.4

p.S1587insFs

c.4759_4760insA

1 paper

NM_007294.4

p.S1587A

c.4759T>G

1 paper

NM_007294.4

p.S1587P

c.4759T>C

6 papers

NM_007294.4

p.E1586D

c.4758G>T

2 papers

NM_007294.4

p.E1586insFs

c.4757dupA

3 papers

NM_007294.4

p.E1586D

c.4758G>C

5 papers

NM_007294.4

p.S1587L

c.4760C>T

10 papers

NM_007294.4

p.S1587*

c.4760C>G

6 papers

NM_007294.4

p.S1587*

c.4760C>A

1 paper

NM_007294.4

p.E1586V

c.4757A>T

4 papers

NM_007294.4

p.E1586G

c.4757A>G

2 papers

NM_007294.4

p.E1586A

c.4757A>C