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

5 papers

NM_007294.4

p.K88delFs

c.262_263delTT

Surrounding Variants

5 papers

NM_007294.4

p.I89S

c.266T>G

27 papers

NM_007294.4

p.I89T

c.266T>C

6 papers

NM_007294.4

p.I89N

c.266T>A

2 papers

NM_007294.4

p.I89delFs

c.265delT

15 papers

NM_007294.4

p.I89M

c.267C>G

1 paper

NM_007294.4

p.I89fs

c.265_266fs

6 papers

NM_007294.4

p.I89F

c.265A>T

5 papers

NM_007294.4

p.I89V

c.265A>G

5 papers

NM_007294.4

p.I89L

c.265A>C

1 paper

NM_007294.4

p.I89insFs

c.265_266insT

2 papers

NM_007294.4

p.I90fs

c.268_269fs

5 papers

NM_007294.4

p.I90F

c.268A>T