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.E1660delFs

c.4979_4980delTT

Surrounding Variants

26 papers

NM_007294.4

p.E1661*

c.4981G>T

1 paper

NM_007294.4

p.E1660insFs

c.4980dupA

7 papers

NM_007294.4

p.E1661Q

c.4981G>C

16 papers

NM_007294.4

p.E1661K

c.4981G>A

6 papers

NM_007294.4

p.E1661V

c.4982A>T

6 papers

NM_007294.4

p.E1660D

c.4980A>T

6 papers

NM_007294.4

p.E1661G

c.4982A>G

7 papers

NM_007294.4

p.E1661A

c.4982A>C

6 papers

NM_007294.4

p.E1660D

c.4980A>C

1 paper

NM_007294.4

p.E1661insFs

c.4981_4982insG

2 papers

NM_007294.4

p.S1655_E1660delFs

c.4964_4979del16

11 papers

NM_007294.4

p.E1660V

c.4979A>T