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

51 papers

NM_007294.4

p.I1824fs

c.5470_5471fs

NM_007300.4

p.I1845fs

c.5533_5534fs

Surrounding Variants

1 paper

NM_007294.4

p.I1824F

c.5470A>T

5 papers

NM_007294.4

p.I1824V

c.5470A>G

1 paper

NM_007294.4

p.I1824L

c.5470A>C

1 paper

NM_007294.4

p.I1824insFs

c.5471_5472insA

1 paper

NM_007294.4

p.I1824S

c.5471T>G

4 papers

NM_007294.4

p.I1824T

c.5471T>C

2 papers

NM_007294.4

p.I1824N

c.5471T>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

18 papers

NM_007294.4

p.I1824fs

c.5470_5471fs

NM_007300.4

p.I1845fs

c.5533_5534fs

3 papers

NM_007294.4

p.I1824M

c.5472T>G