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

7 papers

NM_007294.4

p.K1648I

c.4943A>T

Surrounding Variants

8 papers

NM_007294.4

p.K1648R

c.4943A>G

7 papers

NM_007294.4

p.K1648T

c.4943A>C

9 papers

NM_007294.4

p.K1648*

c.4942A>T

7 papers

NM_007294.4

p.K1648N

c.4944A>T

16 papers

NM_007294.4

p.K1648E

c.4942A>G

8 papers

NM_007294.4

p.K1648Q

c.4942A>C

7 papers

NM_007294.4

p.K1648N

c.4944A>C

1 paper

NM_007294.4

p.K1648_R1649insFs

c.4944_4945ins4

1 paper

NM_007294.4

p.K1648_R1649insG

c.4942_4946ins3

7 papers

NM_007294.4

p.N1647delFs

c.4941delG

1 paper

NM_007294.4

p.E1644_N1647del4

c.4930_4940del12

1 paper

NM_007294.4

p.P1637_N1647del11

c.4909_4940del33