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

2 papers

NM_007294.4

p.E686*

c.2056G>T

Surrounding Variants

1 paper

NM_007294.4

p.E686K

c.2056G>A

1 paper

NM_007294.4

p.N685K

c.2055T>G

1 paper

NM_007294.4

p.N685K

c.2055T>A

1 paper

NM_007294.4

p.N685delFs

c.2053delT

1 paper

NM_007294.4

p.E686insFs

c.2056dupG

2 papers

NM_007294.4

p.E686D

c.2058A>T

1 paper

NM_007294.4

p.N685Fs

c.2054delinsGAAGAGTAACAAGTAAGAAGAGTAACAAGAAGFs

1 paper

NM_007294.4

p.N685Fs

c.2054delinsGAAGAGTAACAAAAAAGAAGAGTAACAAGAAGFs

2 papers

NM_007294.4

p.N685delins

c.2054delinsGAAGAGTAACAAG

2 papers

NM_007294.4

p.E686D

c.2058A>C

1 paper

NM_007294.4

p.E686fs

c.2056_2057fs

1 paper

NM_007294.4

p.K680_N685delFs

c.2040_2053del14