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.N630K

c.1890T>A

Surrounding Variants

4 papers

NM_007294.4

p.N630insFs

c.1888dupA

3 papers

NM_007294.4

p.N630insFs

c.1888_1889insAA

2 papers

NM_007294.4

p.N630K

c.1890T>G

10 papers

NM_007294.4

p.N630delFs

c.1889delT

1 paper

NM_007294.4

p.L631L

c.1891C>T

1 paper

NM_007294.4

p.N630insFs

c.1889_1890dupAT

1 paper

NM_007294.4

p.L631_S632insT

c.1891_1895ins3

1 paper

NM_007294.4

p.L631I

c.1891C>A

1 paper

NM_007294.4

p.N630delFs

c.1890delA

1 paper

NM_007294.4

p.S628_N630del0

c.1882_1890del9

1 paper

NM_007294.4

p.N630I

c.1889A>T

2 papers

NM_007294.4

p.L631fs

c.1891_1892fs