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.K654E

c.1960A>G

Surrounding Variants

58 papers

NM_007294.4

p.K654fs

c.1960_1961fs

24 papers

NM_007294.4

p.K654*

c.1960A>T

10 papers

NM_007294.4

p.K654Q

c.1960A>C

1 paper

NM_007294.4

p.K654insFs

c.1960_1961insG

1 paper

NM_007294.4

p.K654_Y655insGTG

c.1960_1964ins9

6 papers

NM_007294.4

p.K653N

c.1959A>T

2 papers

NM_007294.4

p.K653K

c.1959A>G

7 papers

NM_007294.4

p.K653N

c.1959A>C

1 paper

NM_007294.4

p.K654T

c.1961A>C

2 papers

NM_007294.4

p.K654insFs

c.1961_1962insT

7 papers

NM_007294.4

p.K653fs

c.1957_1958fs

3 papers

NM_007294.4

p.K654_Y655insFs

c.1962_1963insT