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

7 papers

NM_007294.4

p.E352delFs

c.1054delC

Surrounding Variants

35 papers

NM_007294.4

p.E352*

c.1054G>T

1 paper

NM_007294.4

p.E352insFs

c.1054_1055insT

2 papers

NM_007294.4

p.E352insFs

c.1054_1055insA

2 papers

NM_007294.4

p.E352Q

c.1054G>C

5 papers

NM_007294.4

p.E352K

c.1054G>A

4 papers

NM_007294.4

p.K351delFs

c.1053delT

1 paper

NM_007294.4

p.E352E

c.1056A>G

5 papers

NM_007294.4

p.E352fs

c.1054_1055fs

2 papers

NM_007294.4

p.D345_E352del0

c.1035_1055del21

4 papers

NM_007294.4

p.E352insFs

c.1055dupA

1 paper

NM_007294.4

p.W353R

c.1057T>C

1 paper

NM_007294.4

p.E352del1

c.1054_1056delTTC