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.P1464fs

c.4390_4391fs

Surrounding Variants

1 paper

NM_007294.4

p.P1464_I1465insFs

c.4392_4393ins4

1 paper

NM_007294.4

p.P1464insFs

c.4391dupC

2 papers

NM_007294.4

p.P1464P

c.4392T>A

14 papers

NM_007294.4

p.P1464delFs

c.4391delG

1 paper

NM_007294.4

p.P1464Fs

c.4391_4392delinsAFs

2 papers

NM_007294.4

p.P1464L

c.4391C>T

1 paper

NM_007294.4

p.P1464R

c.4391C>G

1 paper

NM_007294.4

p.P1464H

c.4391C>A

5 papers

NM_007294.4

p.I1465L

c.4393A>T

1 paper

NM_007294.4

p.I1465Fs

c.4393delinsTTFs

8 papers

NM_007294.4

p.I1465V

c.4393A>G

5 papers

NM_007294.4

p.I1465L

c.4393A>C