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

5 papers

NM_007294.4

p.S1140del1

c.3418_3419delACT

Surrounding Variants

2 papers

NM_007294.4

p.H1141fs

c.3421_3422fs

3 papers

NM_007294.4

p.H1141Y

c.3421C>T

1 paper

NM_007294.4

p.H1141D

c.3421C>G

2 papers

NM_007294.4

p.S1140_H1141insFs

c.3420_3421insT

1 paper

NM_007294.4

p.H1141_A1142insG

c.3421_3425ins3

2 papers

NM_007294.4

p.S1140fs

c.3418_3419fs

3 papers

NM_007294.4

p.S1140R

c.3420T>G

4 papers

NM_007294.4

p.S1140S

c.3420T>C

3 papers

NM_007294.4

p.S1140R

c.3420T>A

1 paper

NM_007294.4

p.H1141fs

c.3421_3422fs

6 papers

NM_007294.4

p.S1140I

c.3419G>T

1 paper

NM_007294.4

p.S1140Fs

c.3419delinsTGACTACTGFs