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

2 papers

NM_007294.4

p.T926fs

c.2776_2777fs

Surrounding Variants

1 paper

NM_007294.4

p.T926S

c.2776A>T

4 papers

NM_007294.4

p.T926A

c.2776A>G

1 paper

NM_007294.4

p.T926insFs

c.2776_2777insTA

1 paper

NM_007294.4

p.I925delFs

c.2775delG

1 paper

NM_007294.4

p.T926I

c.2777C>T

1 paper

NM_007294.4

p.I925I

c.2775C>T

1 paper

NM_007294.4

p.I925fs

c.2773_2774fs

1 paper

NM_007294.4

p.T926insFs

c.2777_2778insTA

2 papers

NM_007294.4

p.I925delFs

c.2773_2774delAT

2 papers

NM_007294.4

p.Q921_T926delFs

c.2763_2776del14

1 paper

NM_007294.4

p.I925insFs

c.2773_2774insA

1 paper

NM_007294.4

p.I925S

c.2774T>G