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

4 papers

NM_007294.4

p.S896fs

c.2686_2687fs

Surrounding Variants

1 paper

NM_007294.4

p.S896insFs

c.2686_2687insAG

1 paper

NM_007294.4

p.S896delFs

c.2687delC

9 papers

NM_007294.4

p.S896insFs

c.2687_2688insA

1 paper

NM_007294.4

p.S896T

c.2687G>C

1 paper

NM_007294.4

p.S896N

c.2687G>A

9 papers

NM_007294.4

p.S896delFs

c.2686delT

36 papers

NM_007294.4

p.Q895_S896delFs

c.2685_2686delTT

2 papers

NM_007294.4

p.K894_Q895delFs

c.2681_2684del4

2 papers

NM_007294.4

p.K893_S896del0

c.2678_2686del9

6 papers

NM_007294.4

p.P897S

c.2689C>T

1 paper

NM_007294.4

p.P897A

c.2689C>G

1 paper

NM_007294.4

p.P897_K898insC

c.2689_2693ins3