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.K468E

c.1402A>G

Surrounding Variants

2 papers

NM_007294.4

p.K468fs

c.1402_1403fs

1 paper

NM_007294.4

p.K468*

c.1402A>T

1 paper

NM_007294.4

p.K468_A469ins11

c.1402_1406ins33

1 paper

NM_007294.4

p.R466_K467del2

c.1396_1400del6

1 paper

NM_007294.4

p.K467N

c.1401G>C

4 papers

NM_007294.4

p.K467K

c.1401G>A

1 paper

NM_007294.4

p.K467delFs

c.1400delT

1 paper

NM_007294.4

p.K467delFs

c.1400_1401delCT

1 paper

NM_007294.4

p.K468_A469insFs

c.1404_1405insT

2 papers

NM_007294.4

p.K468fs

c.1402_1403fs

1 paper

NM_007294.4

p.K468K

c.1404G>A

3 papers

NM_007294.4

p.K468delFs

c.1403delT