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

2 papers

NM_007294.4

p.L973fs

c.2917_2918fs

Surrounding Variants

6 papers

NM_007294.4

p.L973V

c.2917C>G

2 papers

NM_007294.4

p.L973I

c.2917C>A

1 paper

NM_007294.4

p.G972del1

c.2914_2915delTCC

1 paper

NM_007294.4

p.N969_G972del4

c.2905_2915del12

2 papers

NM_007294.4

p.L973R

c.2918T>G

2 papers

NM_007294.4

p.L973P

c.2918T>C

2 papers

NM_007294.4

p.L973delFs

c.2917delG

2 papers

NM_007294.4

p.G972G

c.2916A>G

3 papers

NM_007294.4

p.G972fs

c.2914_2915fs

6 papers

NM_007294.4

p.G972delFs

c.2915delC

2 papers

NM_007294.4

p.G964_L973delFs

c.2890_2918del29

2 papers

NM_007294.4

p.G972E

c.2915G>A