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

3 papers

NM_007294.4

p.E914Q

c.2740G>C

Surrounding Variants

11 papers

NM_007294.4

p.E914*

c.2740G>T

3 papers

NM_007294.4

p.N913insFs

c.2739dupT

4 papers

NM_007294.4

p.E914K

c.2740G>A

1 paper

NM_007294.4

p.E914fs

c.2740_2741fs

3 papers

NM_007294.4

p.N913fs

c.2737_2738fs

4 papers

NM_007294.4

p.N913K

c.2739T>G

5 papers

NM_007294.4

p.N913K

c.2739T>A

3 papers

NM_007294.4

p.K912_N913delFs

c.2735_2738del4

1 paper

NM_007294.4

p.E914V

c.2741A>T

8 papers

NM_007294.4

p.E914G

c.2741A>G

1 paper

NM_007294.4

p.E914delFs

c.2740delC

3 papers

NM_007294.4

p.E914fs

c.2740_2741fs