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.N799Y

c.2395A>T

Surrounding Variants

2 papers

NM_007294.4

p.E797_P798del2

c.2389_2393del6

2 papers

NM_007294.4

p.N799S

c.2396A>G

1 paper

NM_007294.4

p.P798P

c.2394A>G

2 papers

NM_007294.4

p.P798insFs

c.2393_2394insCT

2 papers

NM_007294.4

p.P798fs

c.2392_2393fs

5 papers

NM_007294.4

p.P798delFs

c.2393delG

1 paper

NM_007294.4

p.N799fs

c.2395_2396fs

1 paper

NM_007294.4

p.N799insFs

c.2396_2397ins26

8 papers

NM_007294.4

p.N799K

c.2397T>G

10 papers

NM_007294.4

p.N799K

c.2397T>A

1 paper

NM_007294.4

p.N799delFs

c.2395delT

7 papers

NM_007294.4

p.P798L

c.2393C>T