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.C226W

c.678T>G

Surrounding Variants

8 papers

NM_007294.4

p.C226fs

c.676_677fs

2 papers

NM_007294.4

p.C226*

c.678T>A

3 papers

NM_007294.4

p.C226delFs

c.677delC

1 paper

NM_007294.4

p.A225_C226delFs

c.673_676del4

11 papers

NM_007294.4

p.E227*

c.679G>T

2 papers

NM_007294.4

p.C226F

c.677G>T

1 paper

NM_007294.4

p.E227insFs

c.679_680insAG

1 paper

NM_007294.4

p.C226S

c.677G>C

3 papers

NM_007294.4

p.E227K

c.679G>A

1 paper

NM_007294.4

p.C226Y

c.677G>A

39 papers

NM_007294.4

p.C226delFs

c.676delA

1 paper

NM_007294.4

p.C226delFs

c.678delA