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.N838D

c.2512A>G

Surrounding Variants

6 papers

NM_007294.4

p.N838fs

c.2512_2513fs

2 papers

NM_007294.4

p.N838Y

c.2512A>T

1 paper

NM_007294.4

p.V837delFs

c.2511delA

2 papers

NM_007294.4

p.V837V

c.2511T>G

2 papers

NM_007294.4

p.N838S

c.2513A>G

1 paper

NM_007294.4

p.N838T

c.2513A>C

3 papers

NM_007294.4

p.V837A

c.2510T>C

3 papers

NM_007294.4

p.N838fs

c.2512_2513fs

3 papers

NM_007294.4

p.N838insFs

c.2513dupA

8 papers

NM_007294.4

p.N838delFs

c.2513delT

1 paper

NM_007294.4

p.V837_N838delFs

c.2509_2513del5

7 papers

NM_007294.4

p.V837I

c.2509G>A