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

7 papers

NM_007294.4

p.K1183_G1184Fs

c.3549_3550delinsTFs

Surrounding Variants

1 paper

NM_007294.4

p.G1184delins

c.3550delinsT

1 paper

NM_007294.4

p.G1184insFs

c.3550_3551insA

1 paper

NM_007294.4

p.K1183delFs

c.3549delT

2 papers

NM_007294.4

p.K1183delFs

c.3548_3549delTT

1 paper

NM_007294.4

p.K1183del1

c.3547_3548delTTT

1 paper

NM_007294.4

p.G1184fs

c.3550_3551fs

3 papers

NM_007294.4

p.G1184V

c.3551G>T

1 paper

NM_007294.4

p.G1184insFs

c.3551_3552insA

5 papers

NM_007294.4

p.G1184A

c.3551G>C

3 papers

NM_007294.4

p.G1184E

c.3551G>A

1 paper

NM_007294.4

p.K1183K

c.3549A>G

7 papers

NM_007294.4

p.K1183fs

c.3547_3548fs