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.S1139_S1143Fs

c.3416_3427delinsCFs

Surrounding Variants

1 paper

NM_007294.4

p.A1142insFs

c.3426dupA

1 paper

NM_007294.4

p.S1143A

c.3427T>G

4 papers

NM_007294.4

p.S1143F

c.3428C>T

2 papers

NM_007294.4

p.S1143C

c.3428C>G

1 paper

NM_007294.4

p.S1143insFs

c.3428_3429insT

2 papers

NM_007294.4

p.S1143Fs

c.3428delinsTAFs

2 papers

NM_007294.4

p.A1142A

c.3426A>G

1 paper

NM_007294.4

p.H1141_A1142insFs

c.3421_3425dup5

1 paper

NM_007294.4

p.A1142fs

c.3424_3425fs

4 papers

NM_007294.4

p.A1142V

c.3425C>T

13 papers

NM_007294.4

p.A1142delFs

c.3424delC

4 papers

NM_007294.4

p.A1142S

c.3424G>T