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.L246delFs

c.736_737delAA

Surrounding Variants

2 papers

NM_007294.4

p.L246F

c.738G>T

1 paper

NM_007294.4

p.L246insFs

c.736dupT

2 papers

NM_007294.4

p.L246F

c.738G>C

6 papers

NM_007294.4

p.L246delFs

c.737delA

3 papers

NM_007294.4

p.L246W

c.737T>G

2 papers

NM_007294.4

p.L246S

c.737T>C

4 papers

NM_007294.4

p.L246*

c.737T>A

6 papers

NM_007294.4

p.N247D

c.739A>G

2 papers

NM_007294.4

p.L246delFs

c.738delC

77 papers

NM_007294.4

p.L246V

c.736T>G

1 paper

NM_007294.4

p.L246M

c.736T>A

1 paper

NM_007294.4

p.L246fs

c.736_737fs