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.A1823Fs

c.5468delinsTTFs

Surrounding Variants

5 papers

NM_007294.4

p.A1823V

c.5468C>T

1 paper

NM_007294.4

p.A1823G

c.5468C>G

1 paper

NM_007294.4

p.A1823E

c.5468C>A

3 papers

NM_007294.4

p.A1823fs

c.5467_5468fs

5 papers

NM_007294.4

p.A1823S

c.5467G>T

3 papers

NM_007294.4

p.A1823P

c.5467G>C

65 papers

NM_007294.4

p.A1823T

c.5467G>A

1 paper

NM_007294.4

p.A1823A

c.5469A>T

1 paper

NM_007294.4

p.A1823A

c.5469A>C

1 paper

NM_007294.4

p.A1823_I1824insFs

c.5469_5470insTA

51 papers

NM_007294.4

p.I1824fs

c.5470_5471fs

NM_007300.4

p.I1845fs

c.5533_5534fs

4 papers

NM_007294.4

p.A1823Splc

c.5468-2A>T