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.P1859delins

c.5575_5577delinsTGA

Surrounding Variants

1 paper

NM_007294.4

p.P1859_H1860insFs

c.5577_5578insA

2 papers

NM_007294.4

p.P1859L

c.5576C>T

37 papers

NM_007294.4

p.P1859R

c.5576C>G

1 paper

NM_007294.4

p.T1852_P1859del8

c.5554_5576del24

6 papers

NM_007294.4

p.H1860fs

c.5578_5579fs

2 papers

NM_007294.4

p.P1859S

c.5575C>T

1 paper

NM_007294.4

p.P1859A

c.5575C>G

1 paper

NM_007294.4

p.P1859T

c.5575C>A

1 paper

NM_007294.4

p.H1860R

c.5579A>G

7 papers

NM_007294.4

p.H1860P

c.5579A>C

4 papers

NM_007294.4

p.H1860insFs

c.5578dupC

5 papers

NM_007294.4

p.H1860delFs

c.5578delG