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.Y1845delFs

c.5534delT

Surrounding Variants

1 paper

NM_007294.4

p.Y1845Y

c.5535C>T

4 papers

NM_007294.4

p.Y1845*

c.5535C>G

4 papers

NM_007294.4

p.Y1845fs

c.5533_5534fs

8 papers

NM_007294.4

p.Y1845*

c.5535C>A

1 paper

NM_007294.4

p.Y1845delins

c.5534_5535delinsTT

1 paper

NM_007294.4

p.Y1845delins

c.5534_5535delinsGG

1 paper

NM_007294.4

p.Y1845delFs

c.5533_5534delTA

2 papers

NM_007294.4

p.Q1846fs

c.5536_5537fs

19 papers

NM_007294.4

p.Q1846*

c.5536C>T

1 paper

NM_007294.4

p.Q1846_C1847insT

c.5536_5540ins3

2 papers

NM_007294.4

p.Q1846K

c.5536C>A

1 paper

NM_007294.4

p.A1843_Y1845del3

c.5527_5534del9