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

249 papers

NM_007294.4

p.Q563*

c.1687C>T

Surrounding Variants

1 paper

NM_007294.4

p.Q563fs

c.1687_1688fs

1 paper

NM_007294.4

p.Q563E

c.1687C>G

1 paper

NM_007294.4

p.S561_I562del2

c.1681_1685del6

1 paper

NM_007294.4

p.I562insFs

c.1685_1686insTA

3 papers

NM_007294.4

p.I562M

c.1686T>G

1 paper

NM_007294.4

p.I562I

c.1686T>A

1 paper

NM_007294.4

p.Q563delFs

c.1687delG

2 papers

NM_007294.4

p.I562insFs

c.1684dupA

2 papers

NM_007294.4

p.I562T

c.1685T>C

39 papers

NM_007294.4

p.I562N

c.1685T>A

1 paper

NM_007294.4

p.M546_I562Fs

c.1638_1685delinsAAAGFs

3 papers

NM_007294.4

p.M546_I562Fs

c.1637_1685delinsGAAAGFs