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

218 papers

NM_007294.4

p.Q1756fs

c.5266_5267fs

NM_007300.4

p.Q1777fs

c.5329_5330fs

Surrounding Variants

14 papers

NM_007294.4

p.Q1756*

c.5266C>T

3 papers

NM_007294.4

p.Q1756E

c.5266C>G

3 papers

NM_007294.4

p.Q1756K

c.5266C>A

1 paper

NM_007294.4

p.S1755insFs

c.5263_5264dupTC

4 papers

NM_007294.4

p.S1755fs

c.5263_5264fs

3 papers

NM_007294.4

p.Q1756L

c.5267A>T

7 papers

NM_007294.4

p.Q1756R

c.5267A>G

8 papers

NM_007294.4

p.Q1756P

c.5267A>C

754 papers

NM_007294.4

p.Q1756insFs

c.5267_5268insC

NM_007300.4

p.Q1777insFs

c.5266dupC

NM_007297.4

p.Q1709insFs

c.5329dupC

1 paper

NM_007294.4

p.Q1756delFs

c.5266delG

1 paper

NM_007294.4

p.R1751_S1755del5

c.5251_5264del15

2 papers

NM_007294.4

p.P1749_S1755del7

c.5245_5264del21