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

82 papers

NM_007294.4

p.S1655_E1661delFs

c.4964_4982del19

Surrounding Variants

6 papers

NM_007294.4

p.E1661D

c.4983A>T

6 papers

NM_007294.4

p.E1661D

c.4983A>C

1 paper

NM_007294.4

p.T1658_E1661del0

c.4974_4982del9

1 paper

NM_007294.4

p.F1662_M1663insGAG

c.4984_4988ins9

6 papers

NM_007294.4

p.F1662V

c.4984T>G

8 papers

NM_007294.4

p.F1662L

c.4984T>C

6 papers

NM_007294.4

p.F1662I

c.4984T>A

3 papers

NM_007294.4

p.E1661del1

c.4981_4983delTTC

6 papers

NM_007294.4

p.E1661V

c.4982A>T

6 papers

NM_007294.4

p.E1661G

c.4982A>G

7 papers

NM_007294.4

p.E1661A

c.4982A>C

1 paper

NM_007294.4

p.E1661insFs

c.4981_4982insG