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

45 papers

NM_007294.4

p.A622V

c.1865C>T

Surrounding Variants

2 papers

NM_007294.4

p.A622G

c.1865C>G

2 papers

NM_007294.4

p.A622A

c.1866G>C

5 papers

NM_007294.4

p.A622A

c.1866G>A

1 paper

NM_007294.4

p.H621delFs

c.1863delA

1 paper

NM_007294.4

p.L623F

c.1867C>T

1 paper

NM_007294.4

p.L623R

c.1868T>G

5 papers

NM_007294.4

p.L623P

c.1868T>C

1 paper

NM_007294.4

p.A622_L623delFs

c.1865_1868del4

1 paper

NM_007294.4

p.H621fs

c.1861_1862fs

3 papers

NM_007294.4

p.H621Y

c.1861C>T

7 papers

NM_007294.4

p.I620delFs

c.1860delA

1 paper

NM_007294.4

p.I620M

c.1860T>G