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.F517V

c.1549T>G

Surrounding Variants

1 paper

NM_007294.4

p.F517insFs

c.1549_1550insA

1 paper

NM_007294.4

p.F517L

c.1549T>C

1 paper

NM_007294.4

p.F517I

c.1549T>A

1 paper

NM_007294.4

p.F517fs

c.1549_1550fs

1 paper

NM_007294.4

p.D516E

c.1548T>G

1 paper

NM_007294.4

p.F517Fs

c.1550delinsCGFs

3 papers

NM_007294.4

p.F517Y

c.1550T>A

1 paper

NM_007294.4

p.D516E

c.1548T>A

3 papers

NM_007294.4

p.P514_F517Fs

c.1542_1550delinsCGFs

1 paper

NM_007294.4

p.D516delFs

c.1546_1547delTC

1 paper

NM_007294.4

p.F517L

c.1551T>G

1 paper

NM_007294.4

p.F517F

c.1551T>C