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.E1462_Y1463insA

c.4384_4388ins3

Surrounding Variants

4 papers

NM_007294.4

p.E1462*

c.4384G>T

7 papers

NM_007294.4

p.E1462K

c.4384G>A

1 paper

NM_007294.4

p.S1461fs

c.4381_4382fs

1 paper

NM_007294.4

p.E1462G

c.4385A>G

1 paper

NM_007294.4

p.E1462A

c.4385A>C

2 papers

NM_007294.4

p.E1462insFs

c.4385_4386insG

1 paper

NM_007294.4

p.S1461insFs

c.4381dupA

2 papers

NM_007294.4

p.S1461T

c.4382G>C

1 paper

NM_007294.4

p.S1461N

c.4382G>A

4 papers

NM_007294.4

p.S1460_S1461delFs

c.4380_4381delTA

2 papers

NM_007294.4

p.E1462fs

c.4384_4385fs

2 papers

NM_007294.4

p.E1462insFs

c.4386dupA