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.N106fs

c.316_317fs

Surrounding Variants

2 papers

NM_007294.4

p.N106Y

c.316A>T

2 papers

NM_007294.4

p.N106D

c.316A>G

3 papers

NM_007294.4

p.N106H

c.316A>C

1 paper

NM_007294.4

p.N106_F107insT

c.316_320ins3

1 paper

NM_007294.4

p.Y105_N106insFs

c.315_316insGG

3 papers

NM_007294.4

p.Y105*

c.315T>G

4 papers

NM_007294.4

p.Y105*

c.315T>A

2 papers

NM_007294.4

p.N106I

c.317A>T

2 papers

NM_007294.4

p.N106S

c.317A>G

1 paper

NM_007294.4

p.N106T

c.317A>C

1 paper

NM_007294.4

p.Y105delFs

c.314_315delAT

1 paper

NM_007294.4

p.N106_F107insFs

c.318_319ins8