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.E259delins

c.776delinsA

Surrounding Variants

1 paper

NM_007294.4

p.E259D

c.777A>T

1 paper

NM_007294.4

p.E259D

c.777A>C

2 papers

NM_007294.4

p.P258_E259delFs

c.774_775delCT

1 paper

NM_007294.4

p.P258_E259delFs

c.773_776del4

7 papers

NM_007294.4

p.E259V

c.776A>T

3 papers

NM_007294.4

p.K260E

c.778A>G

2 papers

NM_007294.4

p.K260Q

c.778A>C

1 paper

NM_007294.4

p.E259insFs

c.775_776insG

3 papers

NM_007294.4

p.E259delFs

c.775delC

9 papers

NM_007294.4

p.H257_E259delFs

c.771_775del5

2 papers

NM_007294.4

p.E259*

c.775G>T

3 papers

NM_007294.4

p.E259K

c.775G>A