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.L205I

c.613T>A

Surrounding Variants

1 paper

NM_007294.4

p.L205V

c.613T>G

1 paper

NM_007294.4

p.L205insFs

c.613_614ins4

1 paper

NM_007297.4

p.L157delFs

c.470_471delCA

1 paper

NM_007294.4

p.Q202_L205delFs

c.604_613del10

12 papers

NM_007294.4

p.L204F

c.612G>T

1 paper

NM_007294.4

p.L204_L205insFs

c.612_613ins4

14 papers

NM_007294.4

p.L204F

c.612G>C

1 paper

NM_007294.4

p.L204delFs

c.610delA

1 paper

NM_007294.4

p.L204W

c.611T>G

1 paper

NM_007294.4

p.E203_L204delFs

c.607_610del4

1 paper

NM_007294.4

p.L205F

c.615A>T

1 paper

NM_007294.4

p.L205F

c.615A>C