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

15 papers

NM_007294.4

p.H835Y

c.2503C>T

Surrounding Variants

3 papers

NM_007294.4

p.H835fs

c.2503_2504fs

1 paper

NM_007294.4

p.G834_H835insFs

c.2502_2503insA

1 paper

NM_007294.4

p.H835R

c.2504A>G

1 paper

NM_007294.4

p.G834insFs

c.2500_2501insG

4 papers

NM_007294.4

p.G834fs

c.2500_2501fs

5 papers

NM_007294.4

p.G834delFs

c.2501delC

1 paper

NM_007294.4

p.H835fs

c.2503_2504fs

8 papers

NM_007294.4

p.H835insFs

c.2504dupA

1 paper

NM_007294.4

p.H835insFs

c.2504_2505ins17

1 paper

NM_007294.4

p.L833_E836Fs

c.2498_2506delinsAACAGFs

5 papers

NM_007294.4

p.G834E

c.2501G>A

3 papers

NM_007294.4

p.G834*

c.2500G>T