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

5 papers

NM_007294.4

p.S578delFs

c.1733_1734delAG

Surrounding Variants

2 papers

NM_007294.4

p.A579P

c.1735G>C

1 paper

NM_007294.4

p.A579T

c.1735G>A

2 papers

NM_007294.4

p.S578insFs

c.1733_1734insC

1 paper

NM_007294.4

p.S578fs

c.1732_1733fs

1 paper

NM_007294.4

p.S578S

c.1734T>G

3 papers

NM_007294.4

p.S578delFs

c.1733delG

1 paper

NM_007294.4

p.A579G

c.1736C>G

5 papers

NM_007294.4

p.S578F

c.1733C>T

4 papers

NM_007294.4

p.S578Y

c.1733C>A

1 paper

NM_007294.4

p.E577insFs

c.1731dupA

1 paper

NM_007294.4

p.S578A

c.1732T>G

2 papers

NM_007294.4

p.F580L

c.1738T>C