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.S1428R

c.4284C>G

Surrounding Variants

4 papers

NM_007294.4

p.S1428_Y1429insFs

c.4284_4285insT

1 paper

NM_007294.4

p.S1428_Y1429insFs

c.4284_4285insG

1 paper

NM_007294.4

p.S1428fs

c.4282_4283fs

1 paper

NM_007294.4

p.S1428R

c.4284C>A

1 paper

NM_007294.4

p.S1428delFs

c.4282_4283delCT

1 paper

NM_007294.4

p.G1422_S1428delFs

c.4264_4283del20

3 papers

NM_007294.4

p.Y1429insFs

c.4285_4286insG

5 papers

NM_007294.4

p.S1428insFs

c.4284dupC

2 papers

NM_007294.4

p.Y1429H

c.4285T>C

2 papers

NM_007294.4

p.S1428insFs

c.4282_4283insA

1 paper

NM_007294.4

p.E1415_N1427insFs

c.4244_4281dup38

1 paper

NM_007294.4

p.S1428N

c.4283G>A