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.L22insFs

c.65_66insA

Surrounding Variants

1 paper

NM_007294.4

p.L22insFs

c.65_66ins4

12 papers

NM_007294.4

p.L22*

c.65T>G

70 papers

NM_007294.4

p.L22S

c.65T>C

12 papers

NM_007294.4

p.L22*

c.65T>A

1 paper

NM_007294.4

p.A17_I21delFs

c.51_63del13

5 papers

NM_007294.4

p.L22V

c.64T>G

1 paper

NM_007294.4

p.L22L

c.64T>C

4 papers

NM_007294.4

p.L22I

c.64T>A

1 paper

NM_007294.4

p.I21_L22Fs

c.63_64delinsAFs

1 paper

NM_007294.4

p.Q19_I21delFs

c.57_63del7

2 papers

NM_007294.4

p.M18_I21del0

c.52_63del12

1 paper

NM_007294.4

p.A17_I21delFs

c.50_63del14