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.E1410_M1411insFs

c.4230_4231ins4

Surrounding Variants

3 papers

NM_007294.4

p.M1411V

c.4231A>G

1 paper

NM_007294.4

p.E1410_M1411Fs

c.4229_4231delinsGGFs

1 paper

NM_007294.4

p.M1411insFs

c.4232_4233insA

29 papers

NM_007294.4

p.M1411T

c.4232T>C

1 paper

NM_007294.4

p.M1411delFs

c.4231delT

2 papers

NM_007294.4

p.Q1408_M1411delFs

c.4224_4231del8

3 papers

NM_007294.4

p.E1410fs

c.4228_4229fs

5 papers

NM_007294.4

p.E1410insFs

c.4229_4230ins4

2 papers

NM_007294.4

p.M1411I

c.4233G>T

1 paper

NM_007294.4

p.M1411insFs

c.4231_4232ins4

1 paper

NM_007294.4

p.M1411fs

c.4231_4232fs

1 paper

NM_007294.4

p.M1411_A1412insFs

c.4233_4234insA