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.F486V

c.1456T>G

Surrounding Variants

1 paper

NM_007294.4

p.A485insFs

c.1455dupA

83 papers

NM_007294.4

p.F486L

c.1456T>C

11 papers

NM_007294.4

p.F486I

c.1456T>A

1 paper

NM_007294.4

p.F486fs

c.1456_1457fs

1 paper

NM_007294.4

p.G484_A485delFs

c.1452_1455del4

1 paper

NM_007294.4

p.F486ins2

c.1457_1458ins6

1 paper

NM_007294.4

p.F486S

c.1457T>C

1 paper

NM_007294.4

p.A485fs

c.1453_1454fs

1 paper

NM_007294.4

p.A485delFs

c.1454delG

1 paper

NM_007294.4

p.F486_V487insFs

c.1458_1459insG

74 papers

NM_007294.4

p.F486L

c.1458T>G

74 papers

NM_007294.4

p.F486L

c.1458T>A