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.E1541fs

c.4621_4622fs

Surrounding Variants

8 papers

NM_007294.4

p.S1542A

c.4624T>G

1 paper

NM_007294.4

p.S1542P

c.4624T>C

1 paper

NM_007294.4

p.S1542T

c.4624T>A

3 papers

NM_007294.4

p.E1541delFs

c.4622_4623delCT

7 papers

NM_007294.4

p.S1542fs

c.4624_4625fs

1 paper

NM_007294.4

p.E1541V

c.4622A>T

1 paper

NM_007294.4

p.E1541G

c.4622A>G

1 paper

NM_007294.4

p.E1541A

c.4622A>C

2 papers

NM_007294.4

p.E1541delFs

c.4621delC

6 papers

NM_007294.4

p.E1541*

c.4621G>T

1 paper

NM_007294.4

p.E1541_S1542insG

c.4621_4625ins3

1 paper

NM_007294.4

p.E1541Q

c.4621G>C