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.T963fs

c.2887_2888fs

Surrounding Variants

1 paper

NM_007294.4

p.T963S

c.2887A>T

1 paper

NM_007294.4

p.T963I

c.2888C>T

1 paper

NM_007294.4

p.T963S

c.2888C>G

9 papers

NM_007294.4

p.E962delFs

c.2885delT

1 paper

NM_007294.4

p.E962E

c.2886A>G

1 paper

NM_007294.4

p.E962fs

c.2884_2885fs

1 paper

NM_007294.4

p.T963T

c.2889T>G

1 paper

NM_007294.4

p.E962_T963delFs

c.2884_2888del5

6 papers

NM_007294.4

p.E962G

c.2885A>G

1 paper

NM_007294.4

p.E962A

c.2885A>C

3 papers

NM_007294.4

p.G964*

c.2890G>T

1 paper

NM_007294.4

p.G964_L965insG

c.2890_2894ins3