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

232 papers

NM_007294.4

p.N1355_Q1356delFs

c.4065_4068del4

Surrounding Variants

6 papers

NM_007294.4

p.E1357*

c.4069G>T

1 paper

NM_007294.4

p.Q1356insFs

c.4067dupA

5 papers

NM_007294.4

p.E1357insFs

c.4069_4070ins4

1 paper

NM_007294.4

p.E1357K

c.4069G>A

2 papers

NM_007294.4

p.N1355_Q1356del2

c.4063_4067del6

3 papers

NM_007294.4

p.N1354_Q1356delFs

c.4062_4068del7

4 papers

NM_007294.4

p.E1357fs

c.4069_4070fs

2 papers

NM_007294.4

p.Q1356Q

c.4068A>G

5 papers

NM_007294.4

p.Q1356fs

c.4066_4067fs

1 paper

NM_007294.4

p.E1357insFs

c.4070_4071ins4

11 papers

NM_007294.4

p.Q1356_E1357delFs

c.4066_4069del4

1 paper

NM_007294.4

p.N1355_Q1356del1

c.4065_4067delTGA