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

21 papers

NM_007294.4

p.D67E

c.201T>G

Surrounding Variants

2 papers

NM_007294.4

p.D67D

c.201T>C

22 papers

NM_007294.4

p.D67E

c.201T>A

8 papers

NM_007294.4

p.D67V

c.200A>T

7 papers

NM_007294.4

p.I68L

c.202A>T

10 papers

NM_007294.4

p.I68V

c.202A>G

9 papers

NM_007294.4

p.D67G

c.200A>G

11 papers

NM_007294.4

p.D67A

c.200A>C

6 papers

NM_007294.4

p.I68L

c.202A>C

1 paper

NM_007294.4

p.D67insFs

c.200_201insGA

1 paper

NM_007294.4

p.D67delFs

c.201delA

1 paper

NM_007294.4

p.I68fs

c.202_203fs

1 paper

NM_007294.4

p.L63_D67delFs

c.189_199del11