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

1 paper

NM_007294.4

p.T549S

c.1646C>G

Surrounding Variants

1 paper

NM_007294.4

p.M546_T549Fs

c.1638_1646delinsAFs

1 paper

NM_007294.4

p.T549fs

c.1645_1646fs

1 paper

NM_007294.4

p.T549S

c.1645A>T

3 papers

NM_007294.4

p.T549A

c.1645A>G

1 paper

NM_007297.4

p.I501ins2

c.1502_1503ins6

1 paper

NM_007294.4

p.N547_I548insFs

c.1641_1642dupTA

1 paper

NM_007297.4

p.I501ins2

c.1502_1503ins6

1 paper

NM_007294.4

p.I548I

c.1644T>C

1 paper

NM_007294.4

p.I548I

c.1644T>A

1 paper

NM_007294.4

p.I548delFs

c.1642_1643delAT

2 papers

NM_007294.4

p.N550fs

c.1648_1649fs

1 paper

NM_007294.4

p.N550Y

c.1648A>T