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

49 papers

NM_007294.4

p.M1I

c.3G>T

Surrounding Variants

35 papers

NM_007294.4

p.M1insFs

c.2dupT

1 paper

NM_007294.4

p.M1_D2insFs

c.3_4insTT

1 paper

NM_007294.4

p.M1insFs

c.2_3ins5

1 paper

NM_007294.4

p.M1insFs

c.1_2insAT

1 paper

NM_007294.4

p.M1_D2insFs

c.3_4insC

4 papers

NM_007294.4

p.M1fs

c.1_2fs

2 papers

NM_007294.4

p.M1_D2insFs

c.3_4insA

1 paper

NM_007294.4

p.M1_D2insFs

c.3_4insTA

36 papers

NM_007294.4

p.M1I

c.3G>C

39 papers

NM_007294.4

p.M1I

c.3G>A

21 papers

NM_007294.4

p.M1delFs

c.2delA

2 papers

NM_007294.4

p.M1delFs

c.1_2delAT