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

39 papers

NM_007294.4

p.E797delFs

c.2389_2390delTC

Surrounding Variants

10 papers

NM_007294.4

p.E797fs

c.2389_2390fs

6 papers

NM_007294.4

p.P798S

c.2392C>T

2 papers

NM_007294.4

p.P798insFs

c.2392_2393insT

1 paper

NM_007294.4

p.P798insFs

c.2392_2393ins4

2 papers

NM_007294.4

p.P798T

c.2392C>A

1 paper

NM_007294.4

p.E797delFs

c.2390delT

2 papers

NM_007294.4

p.E797delFs

c.2389delC

4 papers

NM_007294.4

p.P798fs

c.2392_2393fs

27 papers

NM_007294.4

p.E797*

c.2389G>T

3 papers

NM_007294.4

p.E797K

c.2389G>A

7 papers

NM_007294.4

p.P798L

c.2393C>T

2 papers

NM_007294.4

p.P798R

c.2393C>G