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.Q957E

c.2869C>G

Surrounding Variants

1 paper

NM_007294.4

p.Q957fs

c.2869_2870fs

14 papers

NM_007294.4

p.Q957*

c.2869C>T

2 papers

NM_007294.4

p.Q957K

c.2869C>A

2 papers

NM_007294.4

p.S956delFs

c.2868delA

3 papers

NM_007294.4

p.S956del1

c.2866_2867delAGA

1 paper

NM_007294.4

p.S955_S956del2

c.2863_2867del6

2 papers

NM_007294.4

p.S956fs

c.2866_2867fs

5 papers

NM_007294.4

p.S955del1

c.2863_2864delTGA

2 papers

NM_007294.4

p.Q957R

c.2870A>G

1 paper

NM_007294.4

p.S956_Q957delFs

c.2868_2869delGA

2 papers

NM_007294.4

p.S950_Q957delFs

c.2850_2869del20

1 paper

NM_007294.4

p.Q957fs

c.2869_2870fs