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

2 papers

NM_007294.4

p.S1790A

c.5368T>G

Surrounding Variants

5 papers

NM_007294.4

p.S1790P

c.5368T>C

2 papers

NM_007294.4

p.S1790T

c.5368T>A

4 papers

NM_007294.4

p.S1790fs

c.5368_5369fs

1 paper

NM_007294.4

p.A1789insFs

c.5366dupC

4 papers

NM_007300.4

p.A1810delFs

c.5429delG

NM_007294.4

p.A1789delFs

c.5366delG

3 papers

NM_007294.4

p.S1790F

c.5369C>T

2 papers

NM_007294.4

p.S1790C

c.5369C>G

7 papers

NM_007294.4

p.S1790Y

c.5369C>A

6 papers

NM_007294.4

p.A1789delFs

c.5367delA

1 paper

NM_007294.4

p.S1790fs

c.5368_5369fs

1 paper

NM_007294.4

p.S1790S

c.5370T>C

4 papers

NM_007294.4

p.A1789V

c.5366C>T