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

4 papers

NM_007294.4

p.F1761L

c.5283C>A

Surrounding Variants

4 papers

NM_007294.4

p.F1761L

c.5283C>G

1 paper

NM_007294.4

p.F1761_R1762insFs

c.5283_5284insG

2 papers

NM_007294.4

p.F1761fs

c.5281_5282fs

1 paper

NM_007294.4

p.F1761delFs

c.5282delA

4 papers

NM_007294.4

p.F1761insFs

c.5282_5283insC

8 papers

NM_007294.4

p.F1761C

c.5282T>G

26 papers

NM_007294.4

p.F1761S

c.5282T>C

2 papers

NM_007294.4

p.F1761Y

c.5282T>A

2 papers

NM_007294.4

p.R1762fs

c.5284_5285fs

2 papers

NM_007294.4

p.R1762W

c.5284A>T

4 papers

NM_007294.4

p.R1762G

c.5284A>G

5 papers

NM_007294.4

p.F1761_R1762insFs

c.5283_5284insC