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.D40_I42delFs

c.120_126del7

Surrounding Variants

1 paper

NM_007294.4

p.F43_C44ins13

c.127_131ins39

8 papers

NM_007294.4

p.F43V

c.127T>G

9 papers

NM_007294.4

p.F43L

c.127T>C

11 papers

NM_007294.4

p.F43I

c.127T>A

1 paper

NM_007294.4

p.I42_F43insFs

c.126_127dupAT

7 papers

NM_007294.4

p.F43C

c.128T>G

12 papers

NM_007294.4

p.F43S

c.128T>C

7 papers

NM_007294.4

p.F43Y

c.128T>A

1 paper

NM_007294.4

p.I42_F43delFs

c.126_127delAT

6 papers

NM_007294.4

p.I42I

c.126A>T

7 papers

NM_007294.4

p.I42M

c.126A>G

1 paper

NM_007294.4

p.I42I

c.126A>C