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.F829fs

c.2485_2486fs

Surrounding Variants

1 paper

NM_007294.4

p.F829_K830insFs

c.2487_2488ins5

1 paper

NM_007294.4

p.F829_K830insFs

c.2487_2488ins5

1 paper

NM_007294.4

p.F829S

c.2486T>C

3 papers

NM_007294.4

p.G828_F829del1

c.2483_2485delAGC

6 papers

NM_007294.4

p.K830*

c.2488A>T

8 papers

NM_007294.4

p.K830E

c.2488A>G

6 papers

NM_007294.4

p.F829insFs

c.2487dupT

1 paper

NM_007294.4

p.F829insFs

c.2486_2487dupTT

8 papers

NM_007294.4

p.F829delFs

c.2487delA

8 papers

NM_007294.4

p.F829delFs

c.2486_2487delAA

1 paper

NM_007294.4

p.F829insFs

c.2485_2486insAA

1 paper

NM_007294.4

p.F829I

c.2485T>A